What are genetic counseling and testing?
Preconception genetic counseling along with carrier screening allows each parent to assess their genetic makeup. The results of this genetic screening allow parents to better understand the risk of having a child with a genetic disorder. The genetic counselor analyzes the DNA of both parents to determine if they’re carriers of any congenital conditions (disorders that are present from birth).
Being a carrier means you have a mutation on a specific gene and can pass it on to your offspring but are asymptomatic.
Genetic counseling is performed by a health care provider with specialized knowledge of genetic conditions and their effects on the individual or family. Los Angeles patients turn to Dr. Steve Rad and his advanced education in medical genetics and genetic counseling. He also has training in communication and psychology.
Why get genetic carrier screening?
According to The American College of Obstetrics and Gynecologists, all couples considering pregnancy should be offered genetic carrier screening. Preconception counseling can inform prospective parents of their options and next steps, possible negative outcomes, or reassure them if the risk is low. Patients are referred to preconception genetic counseling for a variety of reasons:
- Advanced maternal age (≥ 35 years old) or advanced paternal age (≥ 40 years old) at the time of delivery
- Personal or family history of birth defects or genetic conditions
- An ultrasound abnormality identified during a prior pregnancy
- Consanguinity (parents who are related to each other)
- Abnormal genetic testing results before or during a previous pregnancy
- Recurrent miscarriages
Ethnicity also impacts a couple’s risk of carrying genetic diseases. Ashkenazi (Eastern European) Jewish populations are at increased risk of Tay-Sachs disease, African Americans are more likely to carry sickle cell anemia, the Mediterranean population is at higher risk for thalassemia, and people of Northern European descent could be carriers of cystic fibrosis.
What happens during genetic counseling?
Our center provides full genetic counseling services and treats the full spectrum of maternal and fetal congenital abnormalities. We collaborate with renowned genetic specialists, available to consult with you at any time.
The consultation with a genetic counselor will include a discussion and review of personal and family medical histories, medical records of previous pregnancies (including complications), prior pregnancy ultrasounds, and prenatal results. Make sure to talk with family members before your consultation (if possible) to bring an accurate record of family health conditions.
The genetic counselor will also explain preconception genetic testing options, including a blood test or saliva sample.
Preterm birth genetic causes
The largest genome-wide study of preterm birth ever conducted included more than 50,000 pregnancies. The results identified the location of no less than six genes whose expressions play a significant role in causing genetic conditions that bring about preterm birth. The study was the culmination of decades of scientific research and the latest innovations in genetic technology.
Dr. Louis Muglia of the March of Dimes Prematurity Research Center said, “overall, genetics probably contributes to between 25% and 40% of all preterm births, and the genes we identified probably represent an even smaller percentage of that, but individually, they might increase or decrease a woman’s chances of having a preterm birth by 10 to 20%. The research findings also help us understand the pathways the genes affect.”
Miscarriage genetic causes
Human reproduction can be remarkably inefficient. Statistics reveal that 10-30% of all pregnancies end in miscarriage. Of those, approximately 5% of women will experience repeated miscarriages, with more than 50% of them never receiving an underlying diagnosis.
Advances in the science of molecular technology have led to breakthroughs in the study of genes and genetic testing. Recent studies have demonstrated that abnormal changes in the genes of pregnant women may contribute to pregnancy loss. This allows for better management, guidance, and insight by medical professionals in lowering the risk of pregnancy loss.
Our center cares for pregnant mothers with genetic abnormalities. We offer non-invasive and invasive genetic testing with the availability of state-of-the-art chromosomal microarray (CMA) and whole exome sequencing (WES).
Our renowned genetic specialists are available to consult with you at any time.
Other reproductive options
If your genetic testing shows that you’re at risk of passing a genetic condition to your child, there are options to ensure a healthy pregnancy.
Of course, you can attempt to conceive naturally. Your doctor may recommend more frequent prenatal screening tests starting from the first trimester. Prenatal testing can determine if your baby is developing any birth defects – at our clinic, we can also repair some birth defects in utero.
In utero surgery and prenatal counseling
As one of the most comprehensive fetal care centers, we treat dozens of fetal anomalies to ensure the best pregnancy outcome. We have a multi-disciplinary team with renowned expert specialists to care for fetal genetic abnormalities across our hospitals. Our Center has specialized Fetal Genetic Disorders testing and a Fetal Surgery Program to take care of you and your unborn baby with the utmost specialized care.
Fetal Surgery is an extraordinarily complex, precise surgical intervention to repair birth defects in the womb, such as:
- Spina Bifida – may result from a combination of genetic, nutritional, and environmental risk factors.
- Cystic Fibrosis – caused by a genetic mutation on chromosome 7. It is one of the most common genetic conditions among Caucasians. About 1,000 new cases are diagnosed every year.
- Thalassemia – a genetic disorder caused by genetic mutations in both parents. It occurs in African Americans and people of Mediterranean and Southeast Asian descent.
- Congenital Diaphragmatic Hernia – may result from a genetic disorder, and in other instances, it may occur without an identifiable genetic condition or mutation.
- Congenital Heart Defects – may result from different genetic conditions and syndromes, German measles (rubella), or environmental factors. Congenital heart defects are the most common type of congenital disability, affecting eight out of every 1,000 newborns. While certain congenital heart defects require no treatment or are easily fixed, more serious problems can be fatal.
More about Dr. Rad
Perinatologist Dr. Rad and his world-class Maternal-Fetal Medicine (MFM) obstetrics and gynecology team at Los Angeles Fetal and Maternal Care understand your High-Risk OB and infertility needs before, during, and after birth. We provide compassionate care and help you understand your pregnancy, answer questions, and provide the emotional support to navigate your pregnancy safely.
Dr. Rad has undergone rigorous training with the highest honors at prestigious, renowned institutions- David Geffen School of Medicine at UCLA, University of Southern California, Cedars-Sinai Medical Center, UCSF Medical Center, and centers internationally, including London, Austria, Israel, Africa.
Call us at (844) 473-6100 or schedule your consultation online. We are currently accepting new patients.
We are conveniently located for patients throughout Southern California and the Los Angeles area at locations in or near Beverly Hills, Santa Monica, West Los Angeles, West Hollywood, Culver City, Hollywood, Venice, Marina del Rey, Malibu, Manhattan Beach, Newport Beach, Irvine, and Downtown Los Angeles. We also offer in-home prenatal care and a fly-in program for out-of-town and international patients. Dr. Rad even travels to patients who need him throughout the U.S. and around the world.
If you can’t make it to Dr. Rad, he also offers virtual consultations worldwide.