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Table 1 Published cases of prenatally diagnosed microhydranencephaly or fetal brain disruption sequence

From: Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review

First author (year)

GW at delivery

Delivery Method

Sex

Fetal birth weight (g)

OFC at birth (SD)

Overlapping suture

Prominent occipital bone

Sloping forehead

Scalp rugae

Normal scalp hair

Cerebral abnormality

Hydrocephalus

GW at prenatal diagnosis

Fetal findings at prenatal diagnosis

Imaging modalities used for prenatal diagnosis

Chromosomal abnormality

Prognosis

Russell (1984) [1]

37

NS

F

2400

-6.4

+

+

+

+

+

Severe atrophy

+

36

Microcephalus

US

Not tested

Death at 4 months

Term

NS

F

1786

-7.5

+

+

+

+

+

Cerebrum defect

+

NA

Microcephalus

US

Not tested

Alive at 4 months

Term

NS

M

1960

-6.6

+

+

NS

+

+

Atrophy and calcification

+

34

Microcephalus

US

Normal karyotype

Death at 23 days

Bönnemann (1990) [7]

35

VD

F

1670

-6.0

+

+

-

+

+

Atrophy

+

NA

Microcephalus

US

NS

NS

Alexander (1995) [2]

Term

VD

F

4200

-0.6

NS

NS

-

+

+

Severe atrophy

+

37

Microcephalus

US

Normal karyotype

Alive at 2.5 years

Gabis (1997) [19]

38

CS

M

NS

-0.9

+

NS

+

NS

+

Porencephaly

-

30

Microcephalus, intracranial hemorrhage, porencephalic cyst

US

NS

NS

DeJonge (1997) [20]

34

NS

F

2014

NS

+

+

+

+

+

Cerebrum defect

NS

28

Microcephalus

US

Normal karyotype

Death at 1 day

Villó (2001) [23]

38

VD

F

2055

-5.0

+

+

NS

+

+

Severe atrophy

+

25

Microcephalus

US

Normal karyotype

Alive at 3 years

Schram (2004) [3]

38

NS

M

2880

-2.8

+

+

+

+

+

Severe hypoplasia

+

28

Occipital flattening

US

Normal karyotype

Death at 2 years

36

VD

M

2590

-3.4

+

NS

-

+

+

Aplasia and atrophy

+

36

Microcephalus, small brain

US

Normal karyotype

Death at 1 month

33

VD

F

2050

-1.0

+

NS

-

+

+

Atrophy and calcification

+

26

Microcephalus, small brain, hypoplastic cerebellum, normal brain stem, hydrocephalus,excess amount of cerebrospinal fluid

US, MRI

Normal karyotype

Death at 1 day

Behunova (2010) [24]

40

NS

M

3770

-2.5

NS

NS

+

+

+

Severe atrophy

+

28–31

Microcephalus

US

Normal karyotype

Alive at 5.5 years

Abdel-Salam (2015) [6]

Term

CS

M

3000

-3.0

+

+

NS

NS

NS

Severe hypoplasia

+

28

Microcephalus, hypoplastic cerebrum, hypoplastic cerebellum, hypoplastic brain stem, hydrocephalus

US, MRI

NS

Death at several days

28

VD

F

NS

NS

+

+

+

NS

NS

Severe hypoplasia

+

24

Microcephalus, hypoplastic cerebrum, hypoplastic cerebellum, hypoplastic brain stem,

hydrocephalus, prominent occipital bone

US, MRI

Normal karyotype

Termination

Omoto (present case)

37

VD

M

2342

-5.4

-

+

+

-

Partial defect

Cerebrum defect

+

23

Microcephalus, cerebrum defect,

cerebellum hypoplasia, normal brain stem,

hydrocephalus, excess amount of cerebrospinal fluid,

prominent occipital bone, sloping forehead

US, MRI, CT

46, XY, inv(9)(p12q13)

Alive at 18 months

  1. GW Gestational week, SD Standard deviation, OFC Occipitofrontal circumference, NS Not stated, VD Vaginal delivery, CS Cesarean section, male, Female, US Ultrasonography, MRI Magnetic resonance imaging, CT Computed tomography