References |
Name |
Testing sample |
Timing of test from |
Abnormality screened/ diagnosed/ evaluated |
Jindal, Sharma and Chaudhary. [5] |
Amniocentesis |
Amniotic fluid |
15 weeks gestation to delivery |
Sex-linked disorders, Rh isoimmunisation, inborn errors of metabolism, L/S ratio, TORCH infections, neural tube defects |
Jindal et al. [5] |
Chorion biopsy |
Tissue aspirate of chorionic villi |
10 to 14 weeks of gestation |
Genetic diseases like Down syndrome, cystic fibrosis, sickle cell anaemia and sex-linked disorders |
Deka et al. [8] |
Fetoscopy |
Foetal blood or tissue sample |
17 to 20 weeks of gestation |
Sickle cell anaemia, haemophilia, Tay Sachs disease, neural tube defects |
Jindal et al. [5], Peddi et al. [9] |
Cordocentesis |
Foetal blood from umbilical cord |
20 to 28 weeks of gestation |
Haematological, inborn infectious disease, histopathologic analysis, metabolic assay, intrauterine growth retardation |
Antsaklis et al. [10] |
MSAFP |
Maternal blood |
14 weeks to 32 weeks of gestation |
Neural tube defects, omphalocele, gastroschisis, down syndrome |
Shiefa et al. [11] |
Chorionic gonadotropin |
Maternal urine or blood sample |
8-10 weeks of gestation to delivery |
Confirmation of pregnancy, ectopic pregnancy, trophoblastic disease, placental site trophoblastic disease |
Betz and Fane. [12] |
Unconjugated oestriol |
Maternal blood serum and plasma |
12 weeks of gestation till term |
Trisomy 21, trisomy 18, foetal growth restriction, foetal demise, pregnancy loss, predicting the onset of labour |
Shiefa et al. [11], Fruscalzo et al. [13] |
PAPP-A |
Maternal blood serum |
10 to 14 weeks of gestation |
Down syndrome, stillbirth, IUGR, SGA, preeclampsia |
Pös, Budiš and Szemes. [14], Bedei et al. [15] |
cffDNA |
Maternal blood |
Ten weeks of gestation till delivery |
Down syndrome, Edward syndrome, Patau syndrome, haemoglobinopathies, phenylketonuria, Rh status |
Ulrich and Dewald. [16] |
USG |
NIL |
10-13 weeks of gestation till delivery |
Foetal viability, CRL, MSD, gross foetal abnormality, chromosomal abnormalities, Intertwin membrane, placental abnormality |
|
Radiography |
NIL |
14 weeks of gestation till delivery |
Diagnosis of pregnancy, foetal maturity, pelvimetry, congenital malformations |