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Amniocentesis

  • Amniocentesis is a procedure in which a small amount of amniotic fluid is drawn to test for certain chromosomal disorders and neural tube defects. Amniocentesis is:

    • Indicated for pregnant women who will be older than 35 years at the time of birth or those who have had an abnormal blood screen

    • Given between 15th and 20th week of pregnancy

    • The most accurate way of determining a baby’s gender before birth

    Amniocentesis at Boston Children’s Hospital

    Researchers are drawing fetal stem cells from amniotic fluid during pregnancy to develop new was to repair congenital defects in babies. Programs that perform amniocentesis at Children’s include the Advanced Fetal Care CenterFetal Cardiology Program and Genetics Program.

  • When do I need amniocentesis?

    Amniocentesis is performed to detect certain birth defects such as Down syndrome,sickle cell disease, cystic fibrosis, muscular dystrophy and Tay-Sachs, among others. It can also detect neural tube defects (diseases in which the brain and spinal column don't develop properly), such as spina bifida and anencephaly. The procedure is 99.4 percent accurate.

    The procedure is generally performed on women who will be older than 35 years when they give birth, since these women have a higher risk of delivering a baby with chromosomal abnormalities. The procedure is also given to women who have had an abnormal ultrasound or blood screen, have a family history for certain birth defects and have another child with an inherited disorder.

    How is amniocentesis performed?

    Amniocentesis is an outpatient procedure. It involves inserting a long, thin needle through the mother’s abdomen and into the amniotic sac to withdraw a small sample of fluid. The fluid inside the sac contains substances that provide important genetic information about your baby’s health.

    First, your abdomen is cleaned with an antiseptic. You may receive a topical numbing medication or a local anesthetic injected into the skin. Then, the doctor inserts a needle which is guided by ultrasound, into the amniotic sac. The ultrasound allows the doctor to see the exact location of the baby. Finally, a small sample of fluid (less than 1 ounce) is withdrawn for laboratory analysis. 

    You may have cramps similar to menstrual cramps during the procedure or for a few hours afterward. It’s recommended that you avoid strenuous activities, including exercise, for the next 24 hours.

    Are there any risks to having the procedure?

    A genetic counselor will discuss the risks and benefits of having the procedure with you. You can choose whether to go through with amniocentesis.

    In general, there risks are minimal. There is a less than 1 percent risk, or 1 in 200 to 1 in 400 pregnancies, of miscarriage. Preterm labor or injury and infection to the baby or the mother are extremely rare but can occur. The procedure can also lead to leaking amniotic fluid and vaginal bleeding.

  • The lab of Dario Fauza, MD, PhD (Surgery), has come closer than any lab in the country using fetal stem cells, taken from amniotic fluid during pregnancy, to fix congenital defects in babies. These mesenchymal stem cells can form many of the tissues needed by surgeons, including muscle, skin, cartilage and even bone. 

    The idea is to harvest them during amniocentesis—which is often done when a congenital defect is seen on ultrasound—then use them to engineer tissues to repair the defects. Now, with the help of research fellow Shaun Steigman, MD, along with staff at the Center for Human Cell Therapy, the lab recently passed an important test, showing the cells can be grown up and banked by the hundreds of millions during the four- to six-month interval between amniocentesis and birth, while meeting FDA-accredited "Good Manufacturing Practice" standards.

    The team isolated cells from diagnostic amniocentesis samples from pregnant women. In 6 of the 11 samples, they successfully expanded, cryopreserved, thawed and re-expanded the cells in sufficient numbers to potentially use in treatment. The first application is likely to be tissue-engineered "patches" to repair congenital diaphragmatic hernias—openings in the membrane separating the lungs and chest cavity from the visceral organs. 

    A few more hurdles lie ahead before clinical trials can be conducted, but this work has taken the lab a significant step closer to being able to correct congenital defects by creating tissues from a baby's own cells.

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