Viable pregnancies after diagnosis of trisomy 16 by CVS: Lethal aneuploidy compartmentalized to the trophoblast

Mark Paul Johnson; Mishun D. Childs; Alfred G. Robichaux; Nelson B. Isada; Peter G. Pryde; Frederick C. Koppitch; Mark I. Evans

doi:10.1159/000263756

Viable pregnancies after diagnosis of trisomy 16 by CVS: Lethal aneuploidy compartmentalized to the trophoblast

Mark Paul Johnson
, Mishun D. Childs
, Alfred G. Robichaux
, Nelson B. Isada
, Peter G. Pryde
, Frederick C. Koppitch
, Mark I. Evans

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

Increasing utilization of chorionic villus sampling (CVS) has lead to the discovery that the placenta can karyotypically be a very heterogenous organ, and chromosomal mosaicism within the placenta can confuse cytogenetic interpretation. Recently, confined placental mosaicism (confined regions of aneuploidy in the otherwise normal diploid placenta and fetus) has been described involving a number of chromosomal abnormalities. Fetal trisomy 16 is considered uniformly lethal early in gestation. However, we present 3 cases of nonmosaic trisomy 16 confined regionally to the placenta. We discuss the possible etiology, impact on the developing fetus, and suggest an approach to the workup and evaluation of cases where the karyotype obtained on CVS is not compatible with the findings on ultrasound.

Original language	English
Pages (from-to)	102-108
Number of pages	7
Journal	Fetal Diagnosis and Therapy
Volume	8
Issue number	2
DOIs	https://doi.org/10.1159/000263756
State	Published - 1993
Externally published	Yes

Keywords

Chorionic villus sampling
Confined placental mosaicism
Trisomy 16

Access to Document

10.1159/000263756

Cite this

@article{fa15385a30af42fc9509b2154ba4a369,

title = "Viable pregnancies after diagnosis of trisomy 16 by CVS: Lethal aneuploidy compartmentalized to the trophoblast",

abstract = "Increasing utilization of chorionic villus sampling (CVS) has lead to the discovery that the placenta can karyotypically be a very heterogenous organ, and chromosomal mosaicism within the placenta can confuse cytogenetic interpretation. Recently, confined placental mosaicism (confined regions of aneuploidy in the otherwise normal diploid placenta and fetus) has been described involving a number of chromosomal abnormalities. Fetal trisomy 16 is considered uniformly lethal early in gestation. However, we present 3 cases of nonmosaic trisomy 16 confined regionally to the placenta. We discuss the possible etiology, impact on the developing fetus, and suggest an approach to the workup and evaluation of cases where the karyotype obtained on CVS is not compatible with the findings on ultrasound.",

keywords = "Chorionic villus sampling, Confined placental mosaicism, Trisomy 16",

author = "Johnson, \{Mark Paul\} and Childs, \{Mishun D.\} and Robichaux, \{Alfred G.\} and Isada, \{Nelson B.\} and Pryde, \{Peter G.\} and Koppitch, \{Frederick C.\} and Evans, \{Mark I.\}",

year = "1993",

doi = "10.1159/000263756",

language = "English",

volume = "8",

pages = "102--108",

journal = "Fetal Diagnosis and Therapy",

issn = "1015-3837",

publisher = "S. Karger AG",

number = "2",

}

TY - JOUR

T1 - Viable pregnancies after diagnosis of trisomy 16 by CVS

T2 - Lethal aneuploidy compartmentalized to the trophoblast

AU - Johnson, Mark Paul

AU - Childs, Mishun D.

AU - Robichaux, Alfred G.

AU - Isada, Nelson B.

AU - Pryde, Peter G.

AU - Koppitch, Frederick C.

AU - Evans, Mark I.

PY - 1993

Y1 - 1993

N2 - Increasing utilization of chorionic villus sampling (CVS) has lead to the discovery that the placenta can karyotypically be a very heterogenous organ, and chromosomal mosaicism within the placenta can confuse cytogenetic interpretation. Recently, confined placental mosaicism (confined regions of aneuploidy in the otherwise normal diploid placenta and fetus) has been described involving a number of chromosomal abnormalities. Fetal trisomy 16 is considered uniformly lethal early in gestation. However, we present 3 cases of nonmosaic trisomy 16 confined regionally to the placenta. We discuss the possible etiology, impact on the developing fetus, and suggest an approach to the workup and evaluation of cases where the karyotype obtained on CVS is not compatible with the findings on ultrasound.

AB - Increasing utilization of chorionic villus sampling (CVS) has lead to the discovery that the placenta can karyotypically be a very heterogenous organ, and chromosomal mosaicism within the placenta can confuse cytogenetic interpretation. Recently, confined placental mosaicism (confined regions of aneuploidy in the otherwise normal diploid placenta and fetus) has been described involving a number of chromosomal abnormalities. Fetal trisomy 16 is considered uniformly lethal early in gestation. However, we present 3 cases of nonmosaic trisomy 16 confined regionally to the placenta. We discuss the possible etiology, impact on the developing fetus, and suggest an approach to the workup and evaluation of cases where the karyotype obtained on CVS is not compatible with the findings on ultrasound.

KW - Chorionic villus sampling

KW - Confined placental mosaicism

KW - Trisomy 16

UR - https://www.scopus.com/pages/publications/0027178451

U2 - 10.1159/000263756

DO - 10.1159/000263756

M3 - Article

C2 - 8338621

AN - SCOPUS:0027178451

SN - 1015-3837

VL - 8

SP - 102

EP - 108

JO - Fetal Diagnosis and Therapy

JF - Fetal Diagnosis and Therapy

IS - 2

ER -

Viable pregnancies after diagnosis of trisomy 16 by CVS: Lethal aneuploidy compartmentalized to the trophoblast

Abstract

Keywords

Access to Document

Fingerprint

Cite this