Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis
Abstract
:1. Introduction
2. Mechanism of Formation of Chromosome Mosaicism
3. Postzygotic Correction of Aneuploidy and Uniparental Disomy (UPD)
UPD type | Syndrome/Disease | OMIM reference ID | Phenotype |
---|---|---|---|
paternal UPD6 | Transient neonatal diabete mellitus (TNDM) | #601410 | IUGR, neonatal diabetes |
maternal UPD7 | Silver-Russell | #180860 | IUGR/PNGR, dysmorfisms |
maternal UPD11 | Silver-Russell | #180860 | IUGR/PNGR, dysmorfisms |
paternal UPD11 | Beckwith-Wiedemann | #130650 | Overgrowth, dysmorfisms, tumors (or isolated hemihyperplasia) |
maternal UPD14 | Temple syndrome | *605636 and #176270 | IUGR, dysmorfisms |
paternal UPD14 | Bell-shaped thorax, developmental retardation | #608149 | Dwarfisms, dysmorfisms |
maternal UPD15 | Prader-Willi | #176270 | Obesity, dymorfisms, MR |
paternal UPD15 | Angelman | #105830 | MR, dysmorfisms |
maternal UPD20 | Growth failure, hyperactivity | *139320 | IUGR/PNGR |
paternal UPD20 | Pseudohypoparathyroidism | *139320 | Pseudohypoparathyroidism |
4. Detection of UPD and Discrimination of the Mechanism Generating the Uniparental Disomy Condition
5. Confined Placental and True Fetal Mosaicisms
5.1. Mosaicism in Amniotic Fluid
5.2. Mosaicism in Chorionic Villi
Type | Nature | Trophoblast | Mesenchyme | Amniocytes | Relative frequencies |
---|---|---|---|---|---|
(direct) | (culture) | ||||
I | CPM | Abnormal | Normal | Normal | 34.76% (308/886) |
II | CPM | Normal | Abnormal | Normal | 42.32% (375/886) |
III | CPM | Abnormal | Abnormal | Normal | 10.16% (90/886) |
IV | TFM | Abnormal | Normal | Abnormal | 1.58% (14/886) |
V | TFM | Normal | Abnormal | Abnormal | 5.76% (51/886) |
VI | TFM | Abnormal | Abnormal | Abnormal | 5.42% (48/886) |
5.3. Risk of Fetal Confirmation by Amniocentesis of a Mosaic Abnormality: An Examination of 52,673 Chorionic Villi Samples
Trophoblast | Mesenchyme | Confirmation |
---|---|---|
(direct) | (culture) | |
A | N | TFM IV/(CPM I + TFM IV) = 14/322 = 4.4% |
MA | N | 7/(236 + 7) = 2.9% |
NMA | N | 7/(72 + 7) = 8.9% |
N | A | TFM V/(CPM II + TFM V) = 51/426 = 12.0% |
N | MA | 35/(335 + 35) = 9.5% |
N | NMA | 16/(40 + 16) = 28.6 % |
A | A | TFM VI/(CPM III + TFM VI) = 48/138 = 34.8% |
MA | MA | 20/(52 + 20) = 27.8% |
NMA | MA | 13/(28 + 13) = 31.7 % |
MA | NMA | 10/(3 + 10) = 76.9 % |
NMA | NMA | 5/(7 + 5) = 41.7% |
Chromosome abnormality | Risk of confirmation stratified by type of mosaicism in chorionic villi [Tfm/(Tfm + Cpm)] | Risk of confirmation of each chromosome abnormality | |||||||
---|---|---|---|---|---|---|---|---|---|
Placental tissue involvement | |||||||||
Only cytotrophoblast (CPMI/TFMIV) | Only mesenchyme (CPMII/TFMV) | Both placental tissues (CPMIII/TFMVI) | |||||||
NMA | MA | NMA | MA | NMA-C/MA-M | MA-C/NMA-M | MA-CM | NMA-CM | ||
Trisomy 1 | 0/1 = 0 | 0/1 = 0 | |||||||
Trisomy 2 | 0/1 = 0 | 0/4 = 0 | 0/9 = 0 | 0/48 = 0 | 0/1 = 0 | 0/1 = 0 | 0/64 = 0 | ||
Trisomy 3 | 0/3 = 0 | 0/20 = 0 | 0/2 = 0 | 0/25 = 0 | |||||
Trisomy 4 | 0/1 = 0 | 0/1 = 0 | 0/1 = 0 | 1/1 = 100% | 1/4 = 25% | ||||
Trisomy 5 | 0/2 = 0 | 0/2 = 0 | |||||||
Trisomy 6 | 0/1 = 0 | 0/1 = 0 | 0/2 = 0 | ||||||
Trisomy 7 | 0/4 = 0 | 0/32 = 0 | 0/2 = 0 | 0/22 = 0 | 0/3 = 0 | 0/1 = 0 | 0/64 = 0 | ||
Trisomy 8 | 0/3 = 0 | 0/6 = 0 | 0/2 = 0 | 2/14 = 14.3% | 0/1 = 0 | 2/26 = 7.7% | |||
Trisomy 9 | 0/1 = 0 | 0/2 = 0 | 0/11 = 0 | 0/1 = 0 | 0/2 = 0 | 0/17 = 0 | |||
Trisomy 10 | 0/2 = 0 | 0/2 = 0 | 0/1 = 0 | 0/5 = 0 | 0/10 = 0 | ||||
Trisomy 11 | 0/1 = 0 | 0/2 = 0 | 0/3 = 0 | ||||||
Trisomy 12 | 0/1 = 0 | 0/1 = 0 | 1/8 = 12.5% | 1/10 = 10% | |||||
Trisomy 13 | 0/2 = 0 | 1/20 = 5% | 0/10 = 0 | 0/4 = 0 | 0/3 = 0 | 1/39 = 2.6% | |||
Trisomy 14 | 0/4 * = 0 | 0/3 = 0 | 0/3 = 0 | 0/10 = 0 | |||||
Trisomy 15 | 0/2 = 0 | 0/12 = 0 | 0/2 * = 0 | 0/5 = 0 | 0/1 = 0 | 0/2 = 0 | 0/24 = 0 | ||
Trisomy 16 | 0/1 = 0 | 0/2 = 0 | 0/1 = 0 | 0/6 = 0 | 0/3 = 0 | 1/2 = 50% | 1 */2 = 50% | 2/17 = 11.8% | |
Trisomy 17 | 0/2 = 0 | 0/2 = 0 | |||||||
Trisomy 18 | 0/10 = 0 | 5/6 = 83.3% | 1/25 = 4% | 0/2 = 0 | 1/2 = 50% | 1/1 = 100% | 8/46 = 17.4% | ||
Trisomy 19 | 0/1 = 0 | 0/1 = 0 | |||||||
Trisomy 20 | 0/10 = 0 | 1/1 = 100% | 1/9 = 11.1% | 0/3 = 0 | 0/2 = 0 | 2/25 = 8% | |||
Trisomy 21 | 1/3 = 33.3% | 0/6 = 0 | 3/5 = 60% | 4/26 = 15.4% | 5/7 = 71.4% | 3/3 = 100% | 0/1 = 0 | 16/51 = 31.4% | |
Trisomy 22 | 0/3 = 0 | 0/1 = 0 | 0/2 = 0 | 0/1 = 0 | 0/2 = 0 | 0/9 = 0 | |||
Multiple trisomies | 0/2 = 0 | 0/5 = 0 | 0/2 = 0 | 0/11 = 0 | 0/2 = 0 | 0/1 = 0 | 0/23 = 0 | ||
All autosomal trisomies | 1/29 = 3.5% | 1/142 = 0.7% | 9/33 = 27.3% | 9/210 = 4.3% | 5/25 = 20% | 4/6 = 66.7% | 2/24 = 8.3% | 2/6 = 33.3% | 33/475 = 6.9% |
47,XYY | 0/2 = 0 | 0/2 = 0 | |||||||
45,X | 4/15 = 26.7% | 3/30 = 10% | 3/4 = 75% | 8/33 = 24.2% | 0/2 = 0 | 1/1 = 100% | 7/16 = 43.8% | 26/101 = 25.7% | |
47,XXY | 0/5 = 0 | 1/1 = 100% | 3/7 = 42.9% | 1/1 = 100% | 2/2 = 100% | 0/1 = 0 | 7/17 = 42.2% | ||
47,XXX | 1/2 = 50% | 0/4 = 0 | 0/1 = 0 | 2/2 = 100% | 1/1 = 100% | 4/10 = 40% | |||
45,X/46,XX/47,XXX | 1/1 = 100% | 1/1 = 100% | 4/4 = 100% | 6/6 = 100% | |||||
All sex chromosome aneuploidies | 5/17 = 29.4% | 3/41 = 7.3% | 4/5 = 80% | 12/42 = 28.6% | 2/4 = 50% | 5/5 = 100% | 12/22 = 37.5% | 43/136 = 31.6% | |
45,−22 | 0/1 = 0 | 0/1 = 0 | |||||||
47,+mar | 1/1 = 100% | 3/12 = 25% | 1/2 = 50% | 6/26 = 23.1% | 2/2 = 100% | 1/2 = 50% | 5/8 = 62.5% | 19/50 = 35.8% | |
47,+der | 0/2 = 0 | 0/4 = 0 | 0/1 = 0 | 0/2 = 0 | 0/9 = 0 | ||||
46,der | 0/10 = 0 | 0/26 = 0 | 0/5 = 0 | 3/54 = 5.6% | 1/1 = 100% | 1/1 = 100% | 5/97 = 5.2% | ||
Triploid | 1/1 = 100% | 1/1 = 100% | 2/2 = 100% | ||||||
Tetraploidy | 0/16 = 0 | 0/9 = 0 | 0/6 = 0 | 0/4 = 0 | 0/6 = 0 | 0/14 = 0 | 0/1 = 0 | 0/53 = 0 | |
47,+i(13q) | 0/4 = 0 | 0/4 = 0 | 0/4 = 0 | ||||||
47,+i(7p) | 0/3 = 0 | 0/3 = 0 | |||||||
Other § | 1/4 = 25% | 2/2 = 100% | 3/5 = 60% | 6/11 = 54.5% | |||||
46,t or 45,rob | 0/4 = 0 | 0/5 = 0 | 2/4 = 50% | 3/21 = 14.3% | 0/1 = 0 | 5/35 = 14.3% | |||
All remaining abnormalities | 1/33 = 3% | 3/60 = 5% | 3/18 = 16.7% | 14/118 = 11.9% | 6/12 = 50% | 1/2 = 50% | 6/26 = 23.1% | 3/6 = 50% | 37/275 = 13.5% |
Type of mosaicism | Trophoblast | Mesenchyme | Amniocytes |
---|---|---|---|
CPM II | 46,XX[15] | 47,XX,+9[12]/47,XX,+9,der(22)[2] | 46,XX |
46,XX[11] | 47,XX,+12,t(12;12)[4]/46,XX[26] | 46,XX | |
46,XX[10] | 46,XX,fra(10)(q12) * | 46,XX | |
CPM III | 46,XX,add(8)[14] | 46,XX,add(2)[13] | 46,XX |
46,X,+mar[20] | 45,X[9] | 46,XY | |
TFM V | 46,XY[14] | 47,XY,+7[3]/46,XY[9] | mos 45,X[9]/46,XY[41] |
TFM VI | 46,X,der(Y)[15] | 46,X,+mar[3]/45,X[2]/47,XX,+mar[3]/46,XX[24]/46,XY[3] | mos 45,X[40]/46,XY[11] |
46,XX,add(13)[16] | 46,XX,add(13)[3]/46,XX[7] | 46,XX,inv(13)(q11.1q32.1)dn.ish inv(13)(q11.1q32.1)dn(D13Z1/D21Z1+,D13S319+,LAMP1+,D13S1160+).arr(1-22,X)x2 | |
46,XY,r(22)[19] | 45,XY,der(21;22)[5] | 46,XY,r(22)(p11;q13) | |
46,XY,add(7)[15] | 46,XY,del(7)[15] | 46,XY,del(7)(q32).ish del(7)(q32)(ELN+,LIMK1+,D7S613+,D7S486+,D7S522+,D7S427−) | |
46,XX,add(6)[12] | 47,XX,6ps,+mar[11] | 46,XX,del(6)(p25.3) |
6. Risk of Fetal Uniparental Disomy (UPD) after the Detection of a Mosaic Abnormality Involving an Imprinted Chromosome
Type of abnormality | No. investigated cases | No. UPD | Type of CPM or TFM | UPD incidence (%) |
---|---|---|---|---|
trisomy 2 | 62 | - | - | - |
trisomy 7 | 60 | - | - | - |
trisomy 6 | 2 | - | - | - |
trisomy 11 | 3 | - | - | - |
trisomy 14 | 10 | 2 | 2 (CPM type I) | 20 |
trisomy 15 | 24 | 1 | 1 (CPM type II) | 4.2 |
trisomy 16 | 17 | 3 | 2 (CPM type III) + 1 (TFM type VI) | 17.6 |
trisomy 20 | 25 | - | - | - |
sSMC, others | 40 | - | - | - |
Total | 243 | 6 | 5 CPM and 1 TFM | 2.5 |
Study | Total No. of CVS sample | No. of CVS samples with trisomy 2 | Prevalence of trisomy 2 in CV | No. of TFM with trisomy 2 after a mosaic in CV | No. of cases with UPD investigation | No. of UPD2 retrieved | Incidence of UPD in mosaic trisomy 2 in CV (%) | |
---|---|---|---|---|---|---|---|---|
% | 1/x | |||||||
Wolstenholme, 1996 | 66,129 | 41 | 0.06 | 1613 | na | na | na | na |
Hahnemann and Vejerslev, 1997 | 92,246 | 11 | 0.01 | 8386 | 0 | na | na | na |
Sago et al., 1997 | 10,500 | 11 | 0.10 | 955 | na | 11 | 0 | 0 |
Sifakis et al., 2010 | 37,474 | 45 | 0.12 | 833 | 0 | 43 | 0 | 0 |
Present Study * | 52,673 | 74 | 0.14 | 712 | 0 | 62 | 0 | 0 |
Total | 259,022 | 182 | 0.07 | 1423 | 0 | 116 | 0 | 0 |
Study | Total No. of CVS sample | No. of CVS samples with trisomy 7 | Prevalence of trisomy 7 in CV | No. of TFM with trisomy 7 after a mosaic in CV | No. of cases with UPD investigation | No. of UPD7 retrieved | Incidence of UPD in mosaic trisomy 7 in CV (%) | |
---|---|---|---|---|---|---|---|---|
% | 1/x | |||||||
Wolstenholme, 1996 | 66,129 | 60 | 0.09 | 1102 | na | na | na | na |
Hahnemann and Vejerslev, 1997 | 92,246 | 32 | 0.03 | 2883 | 0 | na | na | na |
Sachs et al., 1990 | 3000 | 5 | 0.17 | 600 | 0 | na | na | na |
Kalousek et al., 1996 | na | na | na | na | na | 14 | 1 | 7.1 |
Present Study * | 52,673 | 73 | 0.14 | 722 | 0 | 62 | 0 | 0 |
Total | 214,048 | 170 | 0.08 | 1259 | 0 | 76 | 1 | 1.3 |
7. Molecular Techniques for Detection of Chromosomal Mosaicism: Fluorescence in Situ Hybridization Analysis (FISH), Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR), and Chromosomal Microarrays (Array Comparative Genomic Hybridization, aCGH; Single Nucleotide Polymorphism Array, SNP Array)
8. Potential False Positive and False Negative Results Using only (Semi-)Direct Preparation (STC) or Long-Term Culture (LTC)
9. Potential False Positive and False Negative Results with Non-invasive Prenatal Screening (NIPS) for Screening (NIPS) for Common Aneuploidies Due to Feto-Placental Mosaicism
10. Conclusions
Supplementary Files
Supplementary File 1Abbreviations
aCGH | array comparative genomic hybridization |
AF | amniotic fluid |
cffDNA | cell free fetal DNA |
cfpDNA | cell free placental DNA |
CNV | copy number variation |
CPM | confined placental mosaicism |
CVS | chorionic villous sample |
FISH | fluorescence in situ hybridization |
FN | false negative |
FP | false positive |
h/UPDmat/pat | maternal/paternal heterodisomy/isodisomy in uniparental disomy condition |
IUGR | intrauterine growth restriction |
LTC | long term culture |
MA | mosaic abnormality |
MCC | maternal cell contamination |
NDJ | non disjunction |
NIPS | non-invasive prenatal screening |
NGS | next generation sequencing |
NMA | non mosaic abnormality |
PNGR | postnatal growth retardation |
QF-PCR | quantitative fluorescence polymerase chain reaction |
STC | short term culture |
SNP | single nucleotide polymorphism |
STR | short tandem repeat |
TFM | true fetal mosaicism |
UPD | uniparental disomy |
Acknowledgments
Author Contributions
Conflicts of Interest
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Grati, F.R. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis. J. Clin. Med. 2014, 3, 809-837. https://doi.org/10.3390/jcm3030809
Grati FR. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis. Journal of Clinical Medicine. 2014; 3(3):809-837. https://doi.org/10.3390/jcm3030809
Chicago/Turabian StyleGrati, Francesca Romana. 2014. "Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis" Journal of Clinical Medicine 3, no. 3: 809-837. https://doi.org/10.3390/jcm3030809
APA StyleGrati, F. R. (2014). Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis. Journal of Clinical Medicine, 3(3), 809-837. https://doi.org/10.3390/jcm3030809