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UCLA Obstetrics and Gynecology

Reproductive Genetics

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Reproductive Genetics

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Phone: 310-794-7274

What is Reproductive Genetics?

Reproductive genetics is health care that focuses on defining risks for heritable conditions and/or identifying an underlying genetic cause for abnormalities found in a pregnancy.

Overview of the UCLA Reproductive Genetics Program

The UCLA Reproductive Genetics Program, developed by UCLA Obstetrics and Gynecology, is a multidisciplinary program under the leadership of Sulagna C. Saitta, MD, PhD, Professor of Pediatrics and Obstetrics and Gynecology and Deborah Krakow, MD, Professor and Chair of Obstetrics and Gynecology, Genetics, and Orthopedic Surgery at the David Geffen School of Medicine at UCLA.

Reproductive Genetics at UCLA includes an Advanced Diagnostics multidisciplinary service integrating medical geneticists, anatomic and molecular pathologists, fetal MRI/imaging, fetal medicine prenatal imaging experts in the Division of Maternal-Fetal Medicine and Radiology, as well as pediatric cardiologists, neonatologists and surgeons focused on congenital birth defects.

This program utilizes UCLA Health’s expertise in genomic medicine including cytogenetics, microarray testing and clinical prenatal exome sequencing to guide diagnosis and management of pregnancies affected by fetal anomalies. In addition, it provides genetic counseling, testing and management of patients themselves affected by a genetic condition. UCLA OBGYN is leading this effort to bring precision medicine to the prenatal period, allowing for diagnoses that improve care. In addition, a partnership with experts in the Division of Fertility and Reproductive Health allows us to impact the reproductive futures of the families we serve. 

What is Advanced Prenatal Diagnosis?

The Advanced Prenatal Diagnosis program at UCLA offers a multidisciplinary approach to diagnosing birth defects or genetic abnormalities in the growing fetus. This includes a team of maternal fetal medicine specialists, genetic counselors, geneticists, reproductive endocrinologists, and experts in prenatal cytogenetics and pathology. Through a collaborative approach we offer the following genetic counseling, genetic screening and diagnostic testing and services.

Genetic Counseling

Prenatal genetic counselors work with individuals and couples who have an increased chance of having a child with a birth defect or genetic condition. At your appointment, the genetic counselor will go over your detailed family and medical history and help you make decisions about screening and testing during your pregnancy. Women at increased risk who may benefit from genetic counseling include:

  • Maternal age >35 years at delivery
  • Have family members with intellectual disability, birth defects or genetic conditions
  • Have abnormalities found on ultrasound or prenatal screening blood work
  • Are from certain ethnic backgrounds with increased carrier frequency for specific disorders
  • Known carrier of a genetic condition
  • Have had medication or drug exposure early in pregnancy
  • Have a history of recurrent pregnancy loss
  • Pregnancy conceived using mosaic embryos
  • Have a desire for detailed information regarding genetic testing options

Our Services: Genetic Screening Tests and Diagnostic Procedures

When a fetal anomaly is suspected or detected during routine screening, you will first receive a comprehensive diagnostic ultrasound evaluation. It is then determined if additional advanced screening and diagnostic testing is needed.

Genetic Screening at UCLA includes:

  • Alpha-Fetoprotein (AFP) Test to examine the level of AFP in the pregnant patient’s blood during pregnancy and to assess whether further diagnostic testing may be needed. AFP is also known as Open Neural Tube Defect screening and looks for spina bifida (open spine deformity) or another neural tube defect.
  • Carrier Screening to determine an individual’s risk of “carrying” a genetic disorder
  • Sequential Screening to check for neural tube defects, Down syndrome and other genetic abnormalities
  • Cell Free DNA screening (NIPT) to screen for certain chromosomal abnormalities in a fetus
  • Ultrasound screening when indicated:
    • Nuchal Translucency Ultrasound to determine if a baby is statistically more likely to have a chromosomal abnormality
    • Second trimester anatomy ultrasound to assess fetal anatomy
    • Fetal echocardiogram for detailed screening of the fetus’ heart during pregnancy

Advanced Diagnostic Testing offers:

  • Chorionic Villus Sampling (CVS) for genetic diagnostic testing
  • Amniocentesis for genetic diagnosis
  • Periumbilical blood sampling
  • Fetal MRI
  • Advanced diagnostic ultrasounds

Advanced Genetic Testing at UCLA is used to check for chromosomal abnormalities and single-gene disorders. This includes:

  • FISH and karyotype for chromosomal abnormalities
  • Chromosomal Microarray for submicroscopic deletions and duplications not visible on karyotype
  • Clinical exome sequencing
  • Single gene panels specific for a given disorder

In addition, we offer consultation and where appropriate, management of patients with known genetic disorders who are pregnant or planning a pregnancy. We partner with other UCLA specialists in programs including Cardiology, Orthopedics, and Biochemical Genetics, among others, to develop a comprehensive maternal care team. 

Our Expert Team

Sulagna C. Saitta, MD, PhD, Professor of UCLA Pediatrics and UCLA Obstetrics and Gynecology, Director, Reproductive Genetics

Deborah Krakow, MD, Professor and Chair of UCLA Obstetrics and Gynecology, Professor of Orthopaedic Surgery and Professor of Human Genetics at UCLA

Aparna Murali, MS, Prenatal Genetic Counselor, UCLA Obstetrics and Gynecology

Christina Han, MD, Associate Clinical Professor of UCLA Obstetrics and Gynecology and Division Director of Maternal-Fetal Medicine

Division of Maternal Fetal Medicine expert team

Appointments:

Telephone: 310-794-7700

Online request form >

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