PRENATAL TESTING AND DIAGNOSIS

PRENATAL GENETIC TESTING

It generally refers to tests that are done during the pregnancy to either screen for or diagnose a birth defect. Purpose  To enable timely medical or surgical treatment of a condition before or after birth.  To give parents the chance to abort a fetus with the diagnosed condition  To give parents the chance to prepare for the baby with a health problem.


INDICATIONS
It is offered to all pregnant woman if they have positive antenatal screening results. But it is offered definitely in such cases as:  Family history of a genetic disorder.  h/o previous pregnancy with fetal abnormality  Mother exposed to viral infections, teratogen etc  >35 year age of mother, abnormal USG findings, multiple miscarriage, consanguineous couple.


CLASSIFICATION
NON INVASIVE Ultrasonography  INVASIVE Maternal serum alpha feto protein MSAFP Triple test Chorionic villus sampling Amniocentesis Cordocentesis


ULTRASONOGRAPHY
 It

is a sound wave beyond the audible range of frequency greater than 2 MHz.  The transducer converts the electrical energy to mechanical energy and vice versa.  Types : abdominal 3-5 MHz  Vaginal: 5-7 MHz.

Maternal Serum Alpha Feto Protein (MSAFP)

 AFP

is a protein produced by the yolk sac, later fetal liver & enters the amniotic fluid and then maternal serum via fetal urine.  MSAFP reaches a peak around 32 weeks.  AFP in fetal serum and amniotic fluid reaches peak at 13 weeks and then decreases.

MSAFP levels elevated in Conti

 Open

neural tube defects (NTDs)  Multiple pregnancy  Renal anomalies  Fetal death Low levels  Trisomies (13,18,21) Test is done between 15-18 weeks . Cases with high values sent for high resolution USG or Amniocentesis.

TRIPLE TEST
It is a combined biochemical test which includes  MSAFP:  hCG (human chorionic gonadotrophin)  UE3( unconjugated estriol)  Maternal age in relation to GA is also taken into account.  It is used to detect Downs syndrome.  Test done at 15-18 weeks.  Result screen positive if risk ratio is 1:250 or >


CHORIONIC VILLUS SAMPLING  Also known as Chorionic Villus biopsy.  It is carried out trancervically between 10-12 weeks & transabdominally from 10 weeks to term.  Villi are hair like projections that forms the chorion( outer layer of the amniotic sac.

Procedure  To ensure full bladder the women needs to drink plenty of fluids and refrain from urinating for better USG picture.  Transabdominal procedure  Abdominal wall is aseptically prepared and draped.  LA is given.2ml of 1% lignocaine.  Few villi are collected from chorion frondosum under USG guidance with help from a long malleable polyethylene catheter.  Sample is obtained by applying suction from syringe.


Transcervical  The women lies in lithotomy position. The perineum is cleansed and speculum is placed in vagina. under USG guidance a catheter is passed into the uterus and sample is obtained.  The sample obtained is placed in a nutrient media & sent to lab.  The material is carefully analyzed under microscope and foreign cells removed. The cells can be incubated for a day or more & allowed for cell division and then examined for anomalies.


AMNIOCENTESIS


It is the deliberate puncture of the amniotic fluid sac per abdomen.  In early months done at 14 16 wks.  Procedure :  After emptying the bladder the patient remains in dorsal position.  Abdominal wall is aseptically prepared and draped.  LA is given.2ml of 1% lignocaine.

A

18-20 gauze spinal needle is pierced into amniotic cavity under USG control. About 30ml of fluid is collected in a test tube. Liquor rich in fetal cells is cultured. Precautions: prophylactic 100mg Anti D to Rh ve mother. Hazards  Maternal: infection, hemorrhage, PROM, Rh isoimmunization.  Fetal: abortion(1%),trauma, bleeding, oligohydraminos.

CORDOCENTESIS
A 25 G needle is inserted through he maternal abdominal & uterine wall under USG guidance & it punctures the umbilical vein 1-2 cm approx from placental insertion. 0.5- 2 ml blood is collected.  Done around 18-20 weeks. Highly accurate.  Sample sent for karyotyping .