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Table 1 Basic information on the placental mesenchymal dysplasia (PMD) cases analyzed in this study

From: Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia

ID

Macroscopically normal placental region

Macroscopic PMD region

Complications of BWS (BWSp score)

Molecular testing of baby’s PBL or CB

Baby’s sex

(karyotype)

Conception

Gestational period

Delivery

PMD-001

ABM (iso)

Biparental

No

n/a

Female

Spontaneous

28w2d

Vaginal delivery

PMD-002

ABM (iso)

Biparental

No

No alteration

Female

Spontaneous

34w6d

Caesarean section

PMD-003

n/a

Biparental

No

No alteration

Female

Spontaneous

35w6d

Vaginal delivery

PMD-008

Biparental

ABM (iso)

No

n/a

Female

Artificial insemination

35w3d

Caesarean section

PMD-010

Biparental

(8p partial trisomy)

ABM (hetero)

(8p partial trisomy)

n/a

n/a

Female

(46,XX)

Spontaneous

16w4d

Artificial abortion

PMD-012

Biparental

ABM (iso)

No

No alteration

Female

(46,XX)

Spontaneous

31w2d

Caesarean section

PMD-016*

n/a

ABM (iso)

No

No alteration

Male

Spontaneous

27w5d

Caesarean section

PMD-018

n/a

ABM (iso)

n/a

n/a

Female

No information

15w0d

Artificial abortion

PMD-020

Biparental

Biparental

Yes (5)

ICR2-LOM

Male

Spontaneous

26w0d

Caesarean section

PMD-021

ABM (hetero)

ABM (hetero)

No

No alteration

Male

Spontaneous

37w2d

Vaginal delivery

PMD-022

Biparental

ABM (iso)

Yes (6)

No alteration

Female

(46,XX)

Spontaneous

33w0d

Caesarean section

PMD-023

Biparental

ABM (iso)

No

n/a

Female

(46,XX)

Spontaneous

37w3d

Vaginal delivery

PMD-024**

ABM (iso)

Biparental

No

n/a

Female

(46,XX)

Spontaneous

36w6d

Vaginal delivery

PMD-028**

Biparental

n/a

No

n/a

Female

(46,XX)

Spontaneous

36w6d

Vaginal delivery

PMD-029**

Biparental

ABM (iso)

No

n/a

Female

(46,XX)

Spontaneous

36w1d

Vaginal delivery

PMD-030*

n/a

biparental

No

n/a

Male

Spontaneous

29w4d

Caesarean section

PMD-033**

Biparental

ABM (iso)

No

n/a

Female

(46,XX)

Spontaneous

37w1d

Vaginal delivery

PMD-034

Biparental

Biparental

No

n/a

Female

(46,XX)

Frozen–thawed

Embryo transfer

30w5d

Caesarean section

PMD-035

Biparental

ABM (iso)

No

n/a

Female

Spontaneous

36w5d

Caesarean section

PMD-039

n/a

Biparental

No

No alteration

Female

Spontaneous

38w0d

Caesarean section

PMD-041

n/a

ABM (hetero)

n/a

n/a

No information

Spontaneous

16w6d

Spontaneous abortion

PMD-042

Biparental†

ABM (iso)†

No (3)

No alteration

Female

(46,XX)

Spontaneous

35w2d

Vaginal delivery

PMD-043

Biparental†

ABM (iso)†

No

No alteration

Female

Spontaneous

38w2d

Vaginal delivery

PMD-045

Biparental†

ABM (iso)†

n/a

n/a

No information

In vitro fertilization,

Frozen–thawed

Embryo transfer

14w0d

Artificial abortion

PMD-bws022

n/a

Biparental

Yes (13)

patUPD

Female

(46,XX)

Spontaneous

35w3d

Caesarean section

PMD-bws027

Biparental†

ABM (iso)†

Yes (5)

ABM (iso)†

Male‡

(46,XY[17]/46,XX[2])

Spontaneous

26w2d

Caesarean section

  1. ABM, androgenetic/biparental mosaicism; BWS, Beckwith–Wiedemann syndrome; BWSp: Beckwith–Wiedemann spectrum; CB; cord blood; hetero, heterodisomy; ICR2-LOM, loss of methylation at imprinting control region 2; iso, isodisomy; patUPD, segmental paternal uniparental disomy of chromosome 11p; PBL, peripheral blood leukocytes; n/a: not available or not analyzed
  2. *Macroscopic PMD lesion occupied the whole placenta
  3. **Cystic region shrank during pregnancy in PMD-024, -028, -029, and -033; in PMD-028, only the macroscopically normal region was available for the analyses
  4. †Analyzed via short tandem repeats
  5. ‡Early neonatal death
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Clinical Epigenetics

ISSN: 1868-7083

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