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Premature rupture of membranes

MedGen UID:
8826
Concept ID:
C0015944
Finding; Pathologic Function
Synonyms: Fetal Membranes, Premature Rupture; Membrane Premature Rupture (Pregnancy); Membrane Premature Ruptures (Pregnancy); Premature Rupture of Fetal Membranes; Premature Rupture of Membrane (Pregnancy); PROM (Pregnancy)
SNOMED CT: PROM - Premature rupture of membranes (44223004); Rupture of membranes prior to onset of labor (44223004); Premature rupture of membranes (44223004); Rupture of amniotic sac under 24 hours before onset of labor (44223004)
 
HPO: HP:0001788

Definition

Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPremature rupture of membranes

Conditions with this feature

Achondroplasia
MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.
Pallister-Killian syndrome
MedGen UID:
120540
Concept ID:
C0265449
Disease or Syndrome
Pallister-Killian syndrome (PKS) is a dysmorphic condition involving most organ systems, but is also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).
Ehlers-Danlos syndrome, kyphoscoliotic type 1
MedGen UID:
75672
Concept ID:
C0268342
Disease or Syndrome
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive generalized connective tissue disorder characterized by hypotonia, early-onset kyphoscoliosis, and generalized joint hypermobility in association with skin fragility and ocular abnormality. Intelligence is normal. Life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries. Adults with severe kyphoscoliosis are at risk for complications from restrictive lung disease, recurrent pneumonia, and cardiac failure.
Wrinkly skin syndrome
MedGen UID:
98030
Concept ID:
C0406587
Disease or Syndrome
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.
Preterm premature rupture of membranes
MedGen UID:
147582
Concept ID:
C0729264
Pathologic Function
Preterm premature rupture of the membranes (PPROM) is defined as rupture of membranes before 37 weeks of gestation, which occurs in approximately 3% of all pregnancies and accounts for about one-third of spontaneous preterm births (ACOG Practice Bulletin, 1998). Srinivas and Macones (2005) reviewed the pathophysiology of PPROM and noted that familial clustering and ethnic differences in the incidence of PPROM suggest possible genetic influences.
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
TARP syndrome
MedGen UID:
333324
Concept ID:
C1839463
Disease or Syndrome
The classic features of TARP syndrome are talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava. Not all patients have all classic features. Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly. Most patients die in late prenatal or early postnatal stages (summary by Kaeppler et al., 2018).
Ehlers-Danlos syndrome, dermatosparaxis type
MedGen UID:
397792
Concept ID:
C2700425
Disease or Syndrome
Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human.
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
MedGen UID:
862975
Concept ID:
C4014538
Disease or Syndrome
ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
MedGen UID:
1675672
Concept ID:
C5193040
Disease or Syndrome
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).
Marbach-Rustad progeroid syndrome
MedGen UID:
1784907
Concept ID:
C5543388
Disease or Syndrome
Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).
Immunodeficiency 87 and autoimmunity
MedGen UID:
1794280
Concept ID:
C5562070
Disease or Syndrome
Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021).
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
MedGen UID:
1800305
Concept ID:
C5568882
Disease or Syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.
Restrictive dermopathy 1
MedGen UID:
1812447
Concept ID:
C5676878
Disease or Syndrome
A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.

Professional guidelines

PubMed

Stanley AY, Wallace JB, Hernandez AM, Spell JL
MCN Am J Matern Child Nurs 2022 Jan-Feb 01;47(1):25-32. doi: 10.1097/NMC.0000000000000787. PMID: 34860784
Committee on Practice Bulletins-Obstetrics
Obstet Gynecol 2018 Jan;131(1):e1-e14. doi: 10.1097/AOG.0000000000002455. PMID: 29266075
Tchirikov M, Schlabritz-Loutsevitch N, Maher J, Buchmann J, Naberezhnev Y, Winarno AS, Seliger G
J Perinat Med 2018 Jul 26;46(5):465-488. doi: 10.1515/jpm-2017-0027. PMID: 28710882

Recent clinical studies

Etiology

Lin LL, Hung JN, Shiu SI, Su YH, Chen WC, Tseng JJ
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Fulová Veronika, Pilka Radovan
Ceska Gynekol 2023;88(1):27-32. doi: 10.48095/cccg202327. PMID: 36858971
Lorthe E, Letouzey M, Torchin H, Foix L'Helias L, Gras-Le Guen C, Benhammou V, Boileau P, Charlier C, Kayem G; EPIPAGE-2 Obstetric Writing Group
BJOG 2022 Aug;129(9):1560-1573. Epub 2022 Jan 13 doi: 10.1111/1471-0528.17081. PMID: 34954867Free PMC Article
Skupski D
J Perinat Med 2019 Jul 26;47(5):491-492. doi: 10.1515/jpm-2019-0163. PMID: 31112509
Coviello D, Bonati F, Montefusco SM, Mastromatteo C, Fabietti I, Rustico M
Acta Biomed 2004;75 Suppl 1:31-3. PMID: 15301287

Diagnosis

Lin LL, Hung JN, Shiu SI, Su YH, Chen WC, Tseng JJ
Am J Obstet Gynecol MFM 2023 Jul;5(7):100978. Epub 2023 Apr 23 doi: 10.1016/j.ajogmf.2023.100978. PMID: 37094635
Lorthe E, Letouzey M, Torchin H, Foix L'Helias L, Gras-Le Guen C, Benhammou V, Boileau P, Charlier C, Kayem G; EPIPAGE-2 Obstetric Writing Group
BJOG 2022 Aug;129(9):1560-1573. Epub 2022 Jan 13 doi: 10.1111/1471-0528.17081. PMID: 34954867Free PMC Article
Stanley AY, Wallace JB, Hernandez AM, Spell JL
MCN Am J Matern Child Nurs 2022 Jan-Feb 01;47(1):25-32. doi: 10.1097/NMC.0000000000000787. PMID: 34860784
Adachi KN, Nielsen-Saines K, Klausner JD
Front Public Health 2021;9:531073. Epub 2021 Jun 10 doi: 10.3389/fpubh.2021.531073. PMID: 34178906Free PMC Article
Gibson KS, Brackney K
Obstet Gynecol Clin North Am 2020 Dec;47(4):633-651. Epub 2020 Oct 7 doi: 10.1016/j.ogc.2020.08.007. PMID: 33121650

Therapy

Lin LL, Hung JN, Shiu SI, Su YH, Chen WC, Tseng JJ
Am J Obstet Gynecol MFM 2023 Jul;5(7):100978. Epub 2023 Apr 23 doi: 10.1016/j.ajogmf.2023.100978. PMID: 37094635
Gibson KS, Brackney K
Obstet Gynecol Clin North Am 2020 Dec;47(4):633-651. Epub 2020 Oct 7 doi: 10.1016/j.ogc.2020.08.007. PMID: 33121650
Ville Y, Rozenberg P
Best Pract Res Clin Obstet Gynaecol 2018 Oct;52:23-32. Epub 2018 Jul 7 doi: 10.1016/j.bpobgyn.2018.05.002. PMID: 30309793
Meller CH, Carducci ME, Ceriani Cernadas JM, Otaño L
Arch Argent Pediatr 2018 Aug 1;116(4):e575-e581. doi: 10.5546/aap.2018.eng.e575. PMID: 30016035
Committee on Practice Bulletins-Obstetrics
Obstet Gynecol 2018 Jan;131(1):e1-e14. doi: 10.1097/AOG.0000000000002455. PMID: 29266075

Prognosis

Elkafrawi D, Sisti G, Araji S, Khoury A, Miller J, Rodriguez Echevarria B
Medicina (Kaunas) 2020 Apr 13;56(4) doi: 10.3390/medicina56040174. PMID: 32295061Free PMC Article
Petit C, Deruelle P, Behal H, Rakza T, Balagny S, Subtil D, Clouqueur E, Garabedian C
Acta Obstet Gynecol Scand 2018 Dec;97(12):1499-1507. Epub 2018 Sep 6 doi: 10.1111/aogs.13433. PMID: 30080248
Han CS, Schatz F, Lockwood CJ
Clin Perinatol 2011 Sep;38(3):407-21. doi: 10.1016/j.clp.2011.06.001. PMID: 21890016Free PMC Article
Newton ER
Clin Perinatol 2005 Sep;32(3):571-600. doi: 10.1016/j.clp.2005.05.001. PMID: 16085021
Poma PA
J Natl Med Assoc 1996 Jan;88(1):27-32. PMID: 8583489Free PMC Article

Clinical prediction guides

Phillips A, Pagan M, Smith A, Whitham M, Magann EF
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Feduniw S, Pruc M, Ciebiera M, Zeber-Lubecka N, Massalska D, Zgliczynska M, Pawlowska A, Szarpak L
Int J Mol Sci 2023 Apr 28;24(9) doi: 10.3390/ijms24098027. PMID: 37175733Free PMC Article
Zhu J, Ma C, Luan X, Li J, Peng F, Huang L
Mol Med Rep 2021 Feb;23(2) Epub 2020 Dec 10 doi: 10.3892/mmr.2020.11740. PMID: 33300067
Borg F, Gravino G, Schembri-Wismayer P, Calleja-Agius J
Minerva Ginecol 2013 Jun;65(3):345-60. PMID: 23689178
Poma PA
J Natl Med Assoc 1996 Jan;88(1):27-32. PMID: 8583489Free PMC Article

Recent systematic reviews

Aubin AM, McAuliffe L, Williams K, Issah A, Diacci R, McAuliffe JE, Sabdia S, Phung J, Wang CA, Pennell CE
Am J Obstet Gynecol MFM 2023 Aug;5(8):101024. Epub 2023 May 20 doi: 10.1016/j.ajogmf.2023.101024. PMID: 37211087
Lin LL, Hung JN, Shiu SI, Su YH, Chen WC, Tseng JJ
Am J Obstet Gynecol MFM 2023 Jul;5(7):100978. Epub 2023 Apr 23 doi: 10.1016/j.ajogmf.2023.100978. PMID: 37094635
Boskabadi H, Rakhshanizadeh F, Zakerihamidi M
Arch Iran Med 2020 Feb 1;23(2):128-140. PMID: 32061076
Haider BA, Bhutta ZA
Cochrane Database Syst Rev 2017 Apr 13;4(4):CD004905. doi: 10.1002/14651858.CD004905.pub5. PMID: 28407219Free PMC Article
Maraka S, Ospina NM, O'Keeffe DT, Espinosa De Ycaza AE, Gionfriddo MR, Erwin PJ, Coddington CC 3rd, Stan MN, Murad MH, Montori VM
Thyroid 2016 Apr;26(4):580-90. Epub 2016 Mar 3 doi: 10.1089/thy.2015.0418. PMID: 26837268Free PMC Article

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