How can I be sure the baby I am expecting is healthy?

Nothing can guarantee a healthy baby, however, genetic testing can provide parents with information about their child’s genetic identity and detect hundreds of genetic mutations and chromosomal abnormalities.

Obtaining fetal DNA

The first step in prenatal testing is obtaining a sample of genetic material (DNA) from the unborn child. The oldest procedure for doing this is amniocentesis, which is usually performed from 15 weeks of pregnancy. Chorionic villus sampling (CVS) is a newer alternative that is performed earlier in the course of development, between 11 and 14 weeks of pregnancy.

Two of our consultant obstetricians (link to Eko Zhang’s profile) are also sub-specialists in fetal maternal medicine and perform both CVS and Amniocentesis at Richmond Practice. They are otherwise attached to London-based maternity units and a tertiary referral centre.

Both amniocentesis and CVS procedures are usually straightforward and are performed under continuous ultrasound vision to avoid any threat to your baby.

Genetic testing is used to detect:

• Nearly all chromosomal disorders, including Down’s sydrome, trisomy 13, trisomy 18, and sex chromosome abnormalities(such as Turner syndrome and Klinefelter syndrome). Genetic testing is more than 99 percent accurate in diagnosing these conditions.
• Several hundred genetic disorders, such as cystic fibrosis, sickle cell disease and Tay-Sachs disease.
• Neural tube defects such as spina bifida and anencephaly, which is done during amniocentesis.

Unlike amniocentesis, CVS cannot detect neural tube defects, such as spina bifida. If you opt for CVS, we will offer you a blood screening test in your second trimester to determine whether you're at increased risk for neural tube defects.

Over the years, the safety of amniocentesis and chorionic villus sampling has improved significantly, but it still carries a risk of miscarriage or infection.

We know that you may associate the procedure with some apprehension and we therefore make every effort to help you feel safe and supported.

Arrangements

For the genetic screening process at Richmond Practice you will have two appointments. The first is to discuss the procedure carefully with the consultant and address any questions you may have. The procedure itself takes place during the second appointment. Your partner is welcome to accompany you. Please bring your pregnancy notes along to both appointments. During the procedure the ultrasound will give a view of your baby in 3D. We will give you a 3D picture of the baby in one of our magnetic picture frames and/or store the pictures on a USB stick.

Please call or email us to make an appointment.

Insurances: All international insurances: Private German and French insurances, Aviva, Pru Health, Standard Life. Coming soon:, AXA PPP, BUPA.

Cost: £550.