Is autism genetic?

Autism is a behaviorally defined pervasive developmental disorder that affects how a child functions in several areas, including speech, social skills and behavior. Children who have problems in these areas are sometimes said to have an autistic spectrum disorder (ASD) because the severity of symptoms varies greatly.

Autism affects about 1 in 88 children in the United States. More children than ever are being diagnosed with autism. The rates of diagnosis of ASD are about 10 times higher than in the 1980s, though much or all of this increase may be due to improved awareness and changes in how autism is diagnosed.

Genetically, it is clear that the ASD represent a number of different disorders which have some overlap in features.  Genetic inheritance has been strongly suggested by studies of twins and families with multiple affected children.  Overall, it is believed that there are many genes involved in ASD along with possible environmental or immunologic triggers.Advanced paternal age (over the age of 45) has also been implicated.  A number of studies have been performed to estimate the recurrence risk in families who already have a child with ASD.  Older studies showed that the recurrence when there was a child in the family with autism spectrum disorder could be much higher depending on the number of affected siblings and the gender of the current fetus. Overall a recurrence risk of 18.7% for full siblings of an affected child were reported. For half siblings the risk can only be estimated, and may be on the order of 4-8%.  At the current time, there are no prenatal tests to detect children who will be affected with ASD.

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What will my baby look like?

If I select a donor with a certain physical feature, what is the chance his offspring would inherit it?

The answer is not clear. A child’s appearance will often resemble some features of both parents but it is not predictable which features those will be.

I would like my baby to have a certain eye color, can I select a donor that makes that more likely?

Yes you can select a donor to make it more likely, but it is not guaranteed. Eye color does not follow a strict pattern of inheritance. A general rule is that the color brown is dominant while the color blue is recessive. It appears that two genes determine eye color. One gene comes from each parent. A parent can have brown eyes and have one brown gene and one blue gene (brown is dominant and ‘masks’ the blue gene) or two brown genes. A person with blue eyes often has two blue genes. We don’t always know what the genes are just by looking at the eye color in an individual.  A person with hazel or green eyes may be any combination of brown and blue genes. Also, eye color can also change as a child grows older as some with light colors become darker with age.  It is not uncommon to see a blue eyed child when both parent have brown eyes. It is less common to see a dark eyed child from parents who both have blue eyes but it is possible.

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What are the genetic disease tests performed on the donors?

As an FDA compliant and American Association of Tissue Banks (AATB) Inspected and Accredited semen Cryobank, CLI performs testing and screening of donors in accordance with FDA and AATB Standards. In addition, we conform to the New York State Regulations and the American Society for Reproductive Medicine (ASRM) guidelines. Donor screening consists of questionnaires, blood screening, specimen screening, genetic analysis and a physical examination.

Candidates undergo vigorous, lengthy interviews involving personal questions concerning sexual behavior, family background and reasons for participating in our semen donor program. A multi-generational family history is taken and evaluated. Following extensive semen analysis, both prior to and after cryopreservation, the candidate is tested for infectious diseases. The list of screening criteria is continually being updated as regulations and standards are received from governmental and professional organizations.

Genetic Disease Testing
The FDA does not require genetic disease testing.

  • Chromosome Analysis (karyotype)
  • Cystic Fibrosis
  • Ashkenazi Jewish Ancestry – Tay Sachs, Gaucher, Canavans at a minimum
  • French Canadian Ancestry – Tay Sachs
  • Asian, Middle Eastern or Mediterranean – Thalassemia
  • African, Black American – Sickle Cell and other hemoglobinopathies

Starting June 2008:

Spinal Muscular Atrophy on all NEW donors.

Tay Sachs Disease on all Irish donors

Here is a link to all the medical tests included on CLI donors. If you have specific questions, please  contact our Client Services and we would be happy to provide test results for your preferred donors.

Additional testing may be added at any time. Specific medical or genetic testing may be available on request for an additional charge. There may be donors who entered our program prior to 8/2002 still on our current list and they will be missing some of the above mentioned tests. In addition, FDA regulations went into effect in 5/2005 and samples produced prior to that date may not have all the FDA testing completed.

Donors who do not have the 2002 screening tests listed above completed will be indicated as such on their Summary profile or their Family Medical History (if the Summary profile is not available)

For couples considering the use of donor sperm in order to prevent the recurrence of a specific genetic disease, CLI strongly recommends that prior to choosing a donor or having donor insemination, the recipient obtain genetic counseling, including guidance in selecting a donor. Please consult your physician or call us for assistance.

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Frequently Asked Questions About Genetics

What kind of genetic issues are screened for in the donor’s health history?

All donors will have a three-generation family history reviewed by a geneticist. The family history will present information on illnesses and birth defects noted in the individual family members, causes of death, history of miscarriage or reproductive failure, and any known hereditary disorder. Any donor at an increased risk for a genetic or hereditary disorder above that expected in the general population, will be excluded. Examples of disorders that would exclude a donor include alcoholism in a first degree relative, a sibling with spina bifida, a donor with a medical condition such as a heart defect or diabetes, and mental illness or mental retardation in a first degree relative.

Does the normal chromosome analysis on the donor tell me he has no genetic problems?

A chromosome study looks at the whole structure of the chromosome, detecting changes in chromosome structure. It does not look at the level of the genes, which make up the chromosomes like beads on a string. Thousands of genes make up every chromosome. A normal chromosome analysis tells us that no obvious chromosomal defects were found but does not tell us that the genes that make up those chromosomes are indeed normal. Individuals with abnormal chromosome structure (chromosomal rearrangements) are at increased risk for reproductive failure and having children with significant birth defects. They would be excluded from the donor register.

Do you look at the genes of the donor for abnormalities?

Yes, for a limited number of disorders. We do not do a general test that looks at all genes. See the list of genetic diseases tested. Not all genetic diseases known are tested, rather those that are common enough to cause concern, that involve a serious medical condition and that have a readily available genetic test may be selected for testing by our medical director in consultation with our medical advisory board. As gene research progresses, we are constantly evaluating this list of tests on our donors.

If my family history is normal and I am healthy, then what is the chance, if I use a CLI donor, to have a child with a birth defect?

We cannot guarantee that the risk is zero. We know that any healthy couple conceiving a pregnancy has a 3-4% chance of having a child with a birth defect. Family history, good prenatal health, folic acid supplementation prior to and during pregnancy (reducing the risk of neural tube defects), and the age of the mother are all factors that affect the risk for birth defects. Screening tests during pregnancy may be able to offer you important information on the health of your unborn baby. Please discuss any concerns you might have with your physician.

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ASRM Fact Sheet on Parenting Multiples

From the American Society for Reproductive Medicine (ASRM) fact sheet on Challenges of Parenting Multiples:

PSYCHOLOGICAL AND SOCIAL ISSUES

  • Some multiples, especially newborns, may be hard to tell apart even if they are not identical. At first, you can tell multiples apart by color coding their clothing or using bracelets that spell out their names. Soon you will be able to tell them apart by their individual characteristics and personalities.
  • Parents may bond with multiples differently than with single-born children (singletons). During the first weeks, you may find yourself preferring one infant more than the others. Your “favorite” may vary from week to week as you get to know each one. Each infant will have different needs at different times, requiring differing amounts of attention.
  • It is physically harder to take care of multiples than singletons. This is especially true when they are infants and toddlers. It may make the parents feel tired and stressed a lot of the time. Make sure to take some time for yourself and your partner as a couple, even if only for a few minutes a day. Remember to take care of yourself as well as your children.
  • Older brothers and sisters may have a hard time getting used to the new babies. They will need you to pay attention to them too. Try to be sensitive to the needs of your older children. Involve them in the pregnancy by taking them with you to doctor visits. Ask them to help choose items for the nursery. Ask them to be your “helper” and ask for their opinions on taking care of the babies. This will help them feel needed and loved. Young children will need consistent one-on-one time with you, even if it is in short blocks.
  • Some parents and schools prefer that multiples be in separate classes. This may help promote individuality. This is true particularly if the children have different abilities. But some schools may not have enough classes to separate multiples, and sending the children to different schools may not be possible. Contact your local school system to ask about their policies on separating multiples. You can also work with your children’s teachers to provide the best environment for your children.
  • Parents of multiples may feel socially isolated. They may be tired, not have enough personal time, are too busy taking care of the children or are having money troubles. It is easy to become completely consumed in caring for multiples, but don’t abandon all of your hobbies and interests. Instead, look for ways to be creative in balancing your needs with those of your children.
  • Multiples often attract attention. People may ask if you went through fertility treatment. This may have positive or negative consequences depending on the personalities of the parents and children and the nature of the attention. Plan ahead on how you will respond to this kind of attention and questions. Keeping a sense of humor is important.
  • Help from family and friends is often short-term. Parents of multiples usually need additional help, even if one parent stays at home. Premature infants require smaller, more frequent feedings than full-term infants. It also requires a lot of time to feed them at night and change their diapers. You might need someone to help you at night until the babies have reasonable sleeping habits. If you can’t have someone in your home to help, work out a schedule so that each parent shares the work equally. Lack of sleep may cause fatigue and depression. Be aware of these signs in yourself or your partner. You should work as a team to overcome these difficulties. Postpartum depression (PPD) appears to be more likely in mothers of multiples. Depression can also occur in fathers. Recognizing the signs and symptoms of PPD and getting treatment are essential to the well being of the mother and her infants.
  • It might help to find support from organizations that are familiar with multiple births. Networking with parents who have had multiple births can also be helpful during difficult times.

ECONOMIC ISSUES

  • The health care cost for delivery and newborn care for twins is four-times higher when compared to a singleton birth. The increase is 12-times higher for triplets. Check your medical insurance to determine your out-of-pocket costs, if any, and plan ahead.
  • Companies are not as willing to donate formula, diapers, etc., to parents of multiples as in the past. Because the number of multiples has increased, fewer families receive outside help today.
  • The cost of caring for children with lifelong disabilities may be high. Some of your children may have a disability. If one does, you might want to look for government and private agencies or support groups in your area. They may be able to provide educational and financial assistance.
  • The total cost of raising multiples is likely higher than the cost of raising the same number of singletons. Cribs, car seats, high chairs, and other items have to be bought all at once, which can be financially difficult. To save money, check with national retailers about discounts for multiples. Some stores give a 10% discount for twins, 20% discount for triplets, etc. Also check with consignment shops. They often sell new and used children’s items at a fraction of the cost. Most multiple birth support groups have garage sales where families can buy clothing and equipment for multiples at low cost.

CLI BlogASRM is an excellent resource for reproductive facts. Please check out their patient resources website at http://www.reproductivefacts.org/.

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ASRM Fact Sheet on Pregnancy with Multiples

From the American Society for Reproductive Medicine (ASRM) fact sheet on What do I need to worry about with a multiple pregnancy?

What are some problems with having a multiple pregnancy?

Pregnancy loss
The more fetuses there are in the womb, the more likely it is that the pregnancy will end in miscarriage, premature delivery, or stillbirth. Sometimes one or more of the fetuses will no longer be seen with ultrasound, called vanishing twin syndrome. In fact, 1 out of 3 pregnancies with more than one fetus will naturally reduce its number very early in pregnancy.

Problems for the babies
Many problems are linked to the babies being born early (prematurity). Premature babies can have problems with their lungs, stomach, and bowels, and even die. Some require long stays in the neonatal intensive care unit. Prematurity can also cause problems with bleeding in the brain, which can lead to problems with the baby’s nervous system and development. Prematurity can cause problems with movement and mental retardation, including cerebral palsy. Some problems may not be noticed until the children are older.

Problems for the mother
The risk of pregnancy complications goes up with each fetus in the womb. Some women can develop high blood pressure in pregnancy, called preeclampsia or toxemia of pregnancy. This can be dangerous and it can cause preterm birth, seizures, and, in extreme cases, death of the mother. Gestational diabetes (problems with high blood sugar) is more likely with a multiple pregnancy. In the early stages of a multiple pregnancy can also have more nausea, vomiting, and constipation than a woman carrying one baby. Problems with bleeding before and after the delivery are also more common.

What can I do if I have a multiple pregnancy?

If you are carrying more than one fetus, talk with your doctor and partner about your options. Multiple pregnancy often means specialized obstetric care, especially for triplet and other high-order multiples. Many complications cannot be prevented, but getting good care is important to reduce your risks. Some women may choose to have a procedure called multifetal pregnancy reduction. This can be used to reduce the number of fetuses to a smaller number to increase the chances of having just one or two healthy child(ren). Women with serious health problems may consider this necessary to make the pregnancy less risky.

CLI BlogASRM is an excellent resource for reproductive facts. Please check out their patient resources website at http://www.reproductivefacts.org/.

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ASRM Fact Sheet on Fertility Drugs and Multiple Births

From the American Society for Reproductive Medicine (ASRM) fact sheet on Fertility drugs and the risk of multiple births:

How likely is multiple gestation?

Very possible. Depending on the type of fertility treatment used, if more than one follicle is produced, the risk of multiple gestation can be as much as 1 out of 3 women who become pregnant.

What could happen to the babies?

The babies could be born too early, which is called premature birth. Half of all twins and 90% of all triplets are born prematurely. Babies born prematurely may have many health problems.   Their lungs might not be strong enough, so they might have trouble breathing. The blood vessels in their brains might bleed easily. Many other birth defects are associated with multiple births as well.  The babies will probably be underweight and may get sick or even die.

Before birth, the babies might not get all the nutrition that is carried by the blood from their mother. This is particularly true if they share a placenta, the tissue that carries nutrients from the mother to the baby. The babies may not grow as fast as normal. If the multiple babies share important blood vessels through a common placenta, they may develop heart problems or die.

Twins, triplets, and other multiples are more likely to have problems with their brain development and nerves if they are born early. One of the more common  problems is cerebral palsy, an abnormality of the brain. Other problems associated with multiple births may not become known for many years after delivery.

What could happen to the mom?

If you are pregnant with more than one baby, you may experience problems during pregnancy. These potential problems could include high blood pressure, diabetes, anemia (low blood count), or too much or too little amniotic fluid (the fluid that surrounds the baby during a pregnancy). Too much amniotic fluid can be a problem because it can cause premature labor, while too little fluid can cause a problem with the baby’s development. You may need to stay in bed or the hospital for weeks before delivery. This is especially likely if you go into labor early.

Also, you may have problems delivering your babies. There is a higher likelihood of undergoing a Cesarean section, which is when the babies are delivered through a surgical opening in your belly.

What can I do to reduce the risk of multiple births?

During a fertility treatment cycle when fertility drugs are used with timed intercourse or insemination, your doctor will monitor your cycle very carefully. The use of fertility medications makes it more likely that one or more eggs will be fertilized. However, if it appears that too many eggs are developing, your doctor may cancel your cycle and tell you not to have an insemination or intercourse to eliminate your risk of multiple births.

 

CLI Blog smallASRM is an excellent resource for reproductive facts. Please check out their patient resources website at http://www.reproductivefacts.org/.

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Single Parent Resources

Great resources for single parents.

When Baby Makes Two: Single Mothers by Chance or by Choice by Jene Stoneisfer
Single Mothers by Choice: A Guidebook for Single Women Who are Considering or Have Chosen Motherhood by Jane Mattes1994 – 272 pages  A handbook for the growing number of women who have chosen single motherhood offers a helpful analysis of available options.
Chosing Single Motherhood: The Thinking Woman’s Guide by Mikki Morissette
Single by Chance, Mothers by Choice: How Women are Choosing Parenthood without Marriage and Creating the New American Family by Rosanna Hertz
Choice MomsSingle Mothers by Choice

Single Mothers by Choice or Chance

Creating A Family

Unsung Heros: Single Mothers and the American Dream by Ruth Sidel – 2006

Ruth Sidel’s book  is an important attempt to dispel the pervasive negative stereotypes of the single mother by presenting personal stories that defy these preconceived images.

Single Mothers in International Context: Mothers Or Workers? by Simon Duncan, Rosalind Edwards – 1997 – 285 pages

This collection explores the variations in the status of single mothers, focusing on the dominant discourses around single motherhood, state policies towards single mothers, the structure of the labour market at national and local levels, and neighbourhood supports and constraints.

Going Solo: Single Mothers by Choice by Jean Renvoize – 1985 – 318 page

Do I Have a Daddy?: A Story about a Single-Parent Child by Jeanne Warren Lindsay – 1999

Addressing single-parent families, this book helps kids (4-8yr old)with absent, deceased, and unknown dads talk about and deal with this often difficult situation.

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Same Sex Couples Resources

Here are some great resources for same sex couples.

The Ultimate Guide to Pregnancy for Lesbians by Rachel Pepper
The New Essential Guide to Lesbian Conception, Pregnancy and Birth by Stephine Brill
A Donor Insemination Guide: Written By and For Lesbian Women by Marie Mohler and Lacy Frazer
King and King by Linda de Haan
Asha’s Mums by Rosamund Elwin
Holly’s Secret by Nancy Garden
Heather Has Two Mommies by Leslea Newman
Mommy, Mama and Me by Leslea Newman
Family Options for Queer Couples: Article written by our Director, Dr. Michelle Ottey for TAGG Magazine (Washington, DC Metro Area)Rainbow Babies, an online resource for becoming a parent in the gay and lesbian community.National Gay and Lesbian Medical Association

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Donor Insemination/ Assisted Reproduction

Here are some great resources that help navigate through donor insemination process and assisted reproduction.

How to Get Pregnant with the New Techonology by Sherman Shilber
Building a Family with the Assistance of Donor Insemination by Ken Daniels
Helping the Stork: The Choices and Challenges of Donor Insemination by Carol Frost Vercollone
Having Your Baby by Donor Insemination: A Complete Resource Guide by Elizabeth Noble
Getting Pregnant When You Thought You Couldn’t by Helane S. Rosenberg and Yakov Epstein
Conceptions and Misconceptions: The Informed Consumer’s Guide Through the Maze of in Vitro Fertilization & Assisted Reproduction Techniques by Arthur L. Wiscot and David R. Meldrum
Assisted Reproduction: The Complete Guide to Having a Baby with the Help of a Third Party by Thersa Erikson and Maryann Lathus
Choosing Assisted Reproduction: Social, Emotional & Ethical Considerations by Susna Cooper and Ellen Sarasohnsohn Glazer
Buying Dad: One Woman’s Search for the Perfect Sperm Donor by Harlyn Aizley
Behind Closed Doors: Moving Beyond Secrecy and Shame by Kirk Maxey
Cryo Kid: Drawing a New Map by Corine Copnick
How Long Can You Wait to Have a Baby? by Jeanne Twenge
Where Did I Come From?’ Donor Eggs, Sperm and a Surrogate by Anndee Hochman
Waiting for Daisy: A Tale of Two Continents, Three Religions, Five Infertility Doctors, an Oscar, an Atomic Bomb, a Romantic Night, and One  Woman’s Quest to Become a Motherby Peggy Orenstein
Building Your Family Through Egg Donation: What You Will Want to Know About the Emotional Effects by Joyce S. Friedeman and Celeste H. Friedeman
Having Your Baby Through Egg Donation by Ellen Sarasohn Glazer
Mommies, Daddies, Donors, Surrogates: Answering Tough Questions and Building Strong Families by Diane Ehrensaft
Surrogacy and Embryo, Sperm, & Egg Donation: What Were You Thinking?: Considering IVF & Third-Party Reproduction by Theresa M. EricksonCLI Blog
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