Prenatal invasive procedures can be categorised as diagnostic and therapeutic.

Definitive diagnosis of genetic disorders like chromosomal numerical aberration, single gene disorders require microscopic examination of fetal cells.

Diagnosis of fetal infection also requires inavasive testing.

Fetal samples that can be obtained are chorionic villi, amniotic fluid, fetal blood and fetal skin. Prenatal invasive diagnostic procedures include

  1. Amniocentesis
  2. Chorionic villous sampling (CVS)
  3. Fetal blood sampling (FBS)
  4. Tissue biopsy

Treatment can be offered by best fetal medicine doctor in Vijayawada to the unborn baby in a few conditions. Therapeutic invasive procedures include

  1. Intrauterine blood transfusion
  2. Fetal reduction
  3. Laser coagulation
  4. Radiofrequency ablation
  5. Shunt procedures
  6. Bipolar cord coagulation
  7. Medical treatment

What are indications of amniocentesis or CVS?

  1. Aneuploidy screening test (Double marker test/ first trimester screening test/ quadruple screening test/ NIPT) report showing high risk for the baby to have chromosomal abnormality such as trisomy 21 also known as Down syndrome, Trisomy 18 or Edward syndrome, trisomy 13 or Patau syndrome.
  2. History of inheritable disease in the family for which genetic mutation is identified.
  3. Previous child affected with serious genetic disease for which mutation is identified.
  4. Condition where the “to be parents” are carriers of a disease causing genetic or metabolic disease such as thalassemia major, heamophilia, sickle cell disease, cystic fibrosis etc.
  5. Presence of increased NT or major structural abnormality during first trimester scan
  6. Detection of structural abnormalities that can be associated with chromosomal abnormalities during TIFFA scan
  7. When the fetus is suspected to have infection based on ultrasound findings such as ventriculomegaly, intracranial calcifications, severe fetal growth restriction etc.

What information is given in pre test counselling ?

Pre-test counselling can be given by obstetrician or fetal medicine consultant or clinical geneticist.

The following points are discussed with the couple during pre-test counselling session

  1. Benefits and risks of invasive prenatal diagnostic procedures vs screening tests.
  2. Differences between CVS and amniocentesis
  3. Type of termination of pregnancy in case of obtaining abnormal results in the invasive test
  4. Estimated risks of procedure-related pregnancy loss
  5. Limitations of the particular laboratory test(s)
  6. Rate of inconclusive results and reporting times
  7. Written consent for the invasive procedure is taken from the couple

Checklist before and after the procedure:

Rh status and presence of alloantibodies in the mother are checked before the procedure

Universal screening for blood borne viruses is not recommended.

Procedure is performed under strict aseptic conditions and detailed report about the procedure is provided to the woman.

Scan is performed by best gynecologist in Vijayawada after the procedure to check the fetal wellbeing.

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