PMID- 29793366
OWN - NLM
STAT- MEDLINE
DCOM- 20200807
LR  - 20200807
IS  - 1476-4954 (Electronic)
IS  - 1476-4954 (Linking)
VI  - 32
IP  - 24
DP  - 2019 Dec
TI  - Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not 
      detectable by fluorescent in situ hybridization.
PG  - 4177-4180
LID - 10.1080/14767058.2018.1481383 [doi]
AB  - Introduction: Noninvasive prenatal testing (NIPT) is a reliable screening method 
      for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex 
      chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) 
      syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, 
      Angelman, and Prader-Willi syndromes in comparison to the available screening 
      methods. Prenatal screening of Turners syndrome is possible by ultrasound in 
      certain conditions only. Recently benefits of early detection and treatment of 
      Turners syndrome has been emphasized, enforcing on accurate and early screening 
      prenatally.Case details: The current case emphasizes on the reliability of NIPT 
      testing which comes with an advantage of early screening. A 24-year-old primi 
      gravida was referred for NIPT as she tested for high risk on biochemical 
      screening. The Panorama NIPT results showed low risk for trisomies, 21, 18, and 
      13 but high risk of monosomy X and was advised confirmatory amniocentesis. The 
      fluorescence in situ hybridization (FISH) report revealed no numerical 
      abnormality detected for any of the five chromosomes tested. On receiving this 
      discordant report, the sample was rerun for NIPT, to rule out any 
      laboratory-related issues. The result obtained on a rerun was consistent with the 
      first report and showed monosomy X again. The karyotype report was available 
      three weeks later and a rare variant of Turners syndrome was 
      identified.Discussion: Panorama NIPT considers single nucleotide polymorphisms 
      spread across the chromosomes for analysis, different variants of aneuploidy can 
      be picked up in comparison to FISH, similar to the current case wherein it could 
      not as it was a centromeric probe. Reported first case of X chromosome variant 
      detected by NIPT confirmed by karyotyping, missed by FISH.
FAU - Eswarachari, Venkataswamy
AU  - Eswarachari V
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
FAU - Kadam, Priya
AU  - Kadam P
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
FAU - Movva, Sireesha
AU  - Movva S
AUID- ORCID: 0000-0003-1081-6954
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
FAU - Lingaiah, Shruthi
AU  - Lingaiah S
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
FAU - Akther, Riyaz M
AU  - Akther RM
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
FAU - Kidangan, Franics X
AU  - Kidangan FX
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
FAU - Gowda, Kiran C
AU  - Gowda KC
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
FAU - Golakoti, Rudra R K
AU  - Golakoti RRK
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
FAU - Lall, Meena
AU  - Lall M
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Mahajan, Surbhi
AU  - Mahajan S
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Saviour, Pushpa
AU  - Saviour P
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Puri, Ratna
AU  - Puri R
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Verma, Ishwar C
AU  - Verma IC
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Vedam, Ramprasad L
AU  - Vedam RL
AD  - Medgenome Labs Ltd., Narayana Nethralaya, Bangalore, India.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20180613
PL  - England
TA  - J Matern Fetal Neonatal Med
JT  - The journal of maternal-fetal & neonatal medicine : the official journal of the 
      European Association of Perinatal Medicine, the Federation of Asia and Oceania 
      Perinatal Societies, the International Society of Perinatal Obstetricians
JID - 101136916
SB  - IM
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - *Noninvasive Prenatal Testing
MH  - Pregnancy
MH  - Turner Syndrome/*diagnosis
MH  - Young Adult
OTO - NOTNLM
OT  - Noninvasive prenatal testings
OT  - report
OT  - screenings
EDAT- 2018/05/26 06:00
MHDA- 2020/08/08 06:00
CRDT- 2018/05/26 06:00
PHST- 2018/05/26 06:00 [pubmed]
PHST- 2020/08/08 06:00 [medline]
PHST- 2018/05/26 06:00 [entrez]
AID - 10.1080/14767058.2018.1481383 [doi]
PST - ppublish
SO  - J Matern Fetal Neonatal Med. 2019 Dec;32(24):4177-4180. doi: 
      10.1080/14767058.2018.1481383. Epub 2018 Jun 13.