See the published version of this preprint at Orphanet Journal of Rare Diseases.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
Research
Elina Holopainen
Helsingin ja Uudenmaan sairaanhoitopiiri
Corresponding Author
ORCiD: https://orcid.org/0000-0003-3572-1337
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All theses features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH.
Methods: Among 47 Finnish women with CHH, we identified 14 women with ICD codes related to pregnancies, childbirth and puerperium in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values.
Results: There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105-139 cm; 4'1'', range 3'5''-4'7''). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5 and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5-50 cm; 1'7'', range 1'6''-1'8'') and weight (3010 g, range 2100-3320 g; 6.6 lb, range 4.6-7.3 lb) of the offspring in full-term singelton pregnancies was normal.
Conclusions: Despite CHH mothers' significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and planned cesarean section should be planned in term pregnancies.
Keywords
Pregnancy, cartilage-hair hypoplasia, obstetric, cesarean section, miscarriage
Loading...
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
View the published article at Orphanet Journal of Rare Diseases.
Version 2
Posted 20 Oct, 2020
No community comments so far
Editorial decision: Accept
On 07 Nov, 2020
Editor assigned
On 13 Oct, 2020
Submission checks complete
On 12 Oct, 2020
Editor invited
On 12 Oct, 2020
No comments provided
Editorial decision: Minor revision
On 26 Sep, 2020
Review #1 received
Received 22 Jul, 2020
Reviewer #2 agreed
On 22 Jul, 2020
Review #2 received
Received 22 Jul, 2020
Reviewer #1 agreed
On 15 Jul, 2020
Reviewers invited
Invitations sent on 12 Jun, 2020
Editor assigned
On 08 Jun, 2020
Submission checks complete
On 07 Jun, 2020
Editor invited
On 07 Jun, 2020
First submitted
On 05 Jun, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
Learn more about our company.
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
See the published version of this preprint at Orphanet Journal of Rare Diseases.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Elina Holopainen
Helsingin ja Uudenmaan sairaanhoitopiiri
Corresponding Author
ORCiD: https://orcid.org/0000-0003-3572-1337
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
View the published article at Orphanet Journal of Rare Diseases.
Version 2
Posted 20 Oct, 2020
No community comments so far
Editorial decision: Accept
On 07 Nov, 2020
Editor assigned
On 13 Oct, 2020
Submission checks complete
On 12 Oct, 2020
Editor invited
On 12 Oct, 2020
No comments provided
Editorial decision: Minor revision
On 26 Sep, 2020
Review #1 received
Received 22 Jul, 2020
Reviewer #2 agreed
On 22 Jul, 2020
Review #2 received
Received 22 Jul, 2020
Reviewer #1 agreed
On 15 Jul, 2020
Reviewers invited
Invitations sent on 12 Jun, 2020
Editor assigned
On 08 Jun, 2020
Submission checks complete
On 07 Jun, 2020
Editor invited
On 07 Jun, 2020
First submitted
On 05 Jun, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
Background: Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All theses features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH.
Methods: Among 47 Finnish women with CHH, we identified 14 women with ICD codes related to pregnancies, childbirth and puerperium in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values.
Results: There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105-139 cm; 4'1'', range 3'5''-4'7''). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5 and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5-50 cm; 1'7'', range 1'6''-1'8'') and weight (3010 g, range 2100-3320 g; 6.6 lb, range 4.6-7.3 lb) of the offspring in full-term singelton pregnancies was normal.
Conclusions: Despite CHH mothers' significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and planned cesarean section should be planned in term pregnancies.
Loading...