| # | Title | Journal | Year | Citations |
|---|
| 1 | Screening for fetal aneuploidies at 11 to 13 weeks | Prenatal Diagnosis | 2011 | 506 |
| 2 | Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities | Prenatal Diagnosis | 1987 | 459 |
| 3 | Challenges in the diagnosis of fetal non‐chromosomal abnormalities at 11–13 weeks | Prenatal Diagnosis | 2011 | 385 |
| 4 | Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses | Prenatal Diagnosis | 1984 | 384 |
| 5 | Prediction of early, intermediate and late pre‐eclampsia from maternal factors, biophysical and biochemical markers at 11–13 weeks | Prenatal Diagnosis | 2011 | 377 |
| 6 | Gestational age and maternal weight effects on fetal cell‐free DNA in maternal plasma | Prenatal Diagnosis | 2013 | 346 |
| 7 | Cytogenetic results from the U.S. collaborative study on CVS | Prenatal Diagnosis | 1992 | 330 |
| 8 | Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast | Prenatal Diagnosis | 2007 | 326 |
| 9 | Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data | Prenatal Diagnosis | 2002 | 318 |
| 10 | Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos | Prenatal Diagnosis | 1995 | 310 |
| 11 | The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies | Prenatal Diagnosis | 2013 | 310 |
| 12 | Fetal morbidity and mortality after acute human parvovirus B19 infection in pregnancy: prospective evaluation of 1018 cases | Prenatal Diagnosis | 2004 | 289 |
| 13 | Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci | Prenatal Diagnosis | 2012 | 284 |
| 14 | Prenatal diagnosis of congenital cytomegalovirus infection in 189 pregnancies with known outcome | Prenatal Diagnosis | 2001 | 266 |
| 15 | Promises, pitfalls and practicalities of prenatal whole exome sequencing | Prenatal Diagnosis | 2018 | 262 |
| 16 | Combining Ultrasound and Biochemistry in First-Trimester Screening for Down's syndrome | Prenatal Diagnosis | 1997 | 258 |
| 17 | A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses | Prenatal Diagnosis | 1984 | 252 |
| 18 | 47,XXY (KLINEFELTER SYNDROME) AND 47,XYY: ESTIMATED RATES OF AND INDICATION FOR POSTNATAL DIAGNOSIS WITH IMPLICATIONS FOR PRENATAL COUNSELLING | Prenatal Diagnosis | 1997 | 250 |
| 19 | Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies | Prenatal Diagnosis | 2015 | 247 |
| 20 | Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis | Prenatal Diagnosis | 2015 | 243 |
| 21 | Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomy | Prenatal Diagnosis | 2012 | 238 |
| 22 | Preterm delivery, maternal death, and vertical transmission in a pregnant woman with COVID‐19 infection | Prenatal Diagnosis | 2020 | 230 |
| 23 | Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound | Prenatal Diagnosis | 2012 | 222 |
| 24 | Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis | Prenatal Diagnosis | 1998 | 214 |
| 25 | Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22 | Prenatal Diagnosis | 1998 | 212 |
| 26 | United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis | Prenatal Diagnosis | 1984 | 211 |
| 27 | Prediction of pregnancy complications by first-trimester maternal serum PAPP-A and free β-hCG and with second-trimester uterine artery Doppler | Prenatal Diagnosis | 2005 | 208 |
| 28 | Maternal obesity and neurodevelopmental and psychiatric disorders in offspring | Prenatal Diagnosis | 2017 | 208 |
| 29 | The fetal circulation | Prenatal Diagnosis | 2004 | 205 |
| 30 | Validation of targeted sequencing of single‐nucleotide polymorphisms for non‐invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y | Prenatal Diagnosis | 2013 | 202 |
| 31 | A series of 238 cytomegalovirus primary infections during pregnancy: description and outcome | Prenatal Diagnosis | 2013 | 200 |
| 32 | Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism | Prenatal Diagnosis | 1991 | 197 |
| 33 | Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors | Prenatal Diagnosis | 2012 | 197 |
| 34 | Fetal blood sampling via the umbilical cord using a needle guided by ultrasound report of 66 cases | Prenatal Diagnosis | 1983 | 189 |
| 35 | Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities | Prenatal Diagnosis | 2015 | 189 |
| 36 | Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011) | Prenatal Diagnosis | 2012 | 188 |
| 37 | Prediction of gestational diabetes mellitus by maternal factors and biomarkers at 11 to 13 weeks | Prenatal Diagnosis | 2011 | 187 |
| 38 | A model for a new pyramid of prenatal care based on the 11 to 13 weeks' assessment | Prenatal Diagnosis | 2011 | 186 |
| 39 | Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders | Prenatal Diagnosis | 1982 | 184 |
| 40 | Fetal loss in Down syndrome pregnancies | Prenatal Diagnosis | 1999 | 184 |
| 41 | Adverse outcome in pregnancy following amniotic fluid isolation ofUreaplasma urealyticum | Prenatal Diagnosis | 1992 | 182 |
| 42 | Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis | Prenatal Diagnosis | 2013 | 181 |
| 43 | Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases | Prenatal Diagnosis | 2009 | 180 |
| 44 | Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease | Prenatal Diagnosis | 2013 | 179 |
| 45 | Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts | Prenatal Diagnosis | 2015 | 179 |
| 46 | An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue | Prenatal Diagnosis | 1988 | 178 |
| 47 | Experience with microarray‐based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies | Prenatal Diagnosis | 2012 | 178 |
| 48 | Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses | Prenatal Diagnosis | 2000 | 174 |
| 49 | Congenital diaphragmatic hernia: an evaluation of the prognostic value of the lung-to-head ratio and other prenatal parameters | Prenatal Diagnosis | 2003 | 173 |
| 50 | Systematic review of accuracy of fetal urine analysis to predict poor postnatal renal function in cases of congenital urinary tract obstruction | Prenatal Diagnosis | 2007 | 173 |
