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. 2022 Oct 5;14(10):e29965. doi: 10.7759/cureus.29965

Table 2. Summary of invasive and non-invasive prenatal tests.

Rh: Rhesus factor, L/S ratio: Lecithin/ Sphingomyelin ratio, TORCH infections: Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus and Herpes infections, MSAFP: Maternal serum alpha-fetoprotein, PAPP-A: Pregnancy-associated plasma protein A, IUGR: Intrauterine growth restriction, SGA: Small for gestational age, cffDNA: Cell-free foetal DNA, USG: Ultrasonography, CRL: Crown-rump length, MSD: Musculoskeletal disorders.

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