Research & Literature

Recommendations for palliative and bereavement care in the NICU: a family-centered integrative approach.

Kenner C, Press J, Ryan D

Journal of perinatology : official journal of the California Perinatal Association 2015; (35 Suppl 1()):S19-23 doi:10.1038/jp.2015.145.

Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.

Beena S, Murlidhar L, Seshadri S, et al.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2017; (30(9)):1041-1044 doi:10.1080/14767058.2016.1199675.

The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects.

Bird IM, Kim SH, Schweppe DK, et al.

Development (Cambridge, England) 2018; (145(1)) doi:10.1242/dev.156588.

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

Vanegas S, Sua LF, López-Tenorio J, et al.

The application of clinical genetics 2018; (11()):69-73 doi:10.2147/TACG.S157235.

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.

Savarirayan R, Rossiter JP, Hoover-Fong JE, et al.

American journal of obstetrics and gynecology 2018; (219(6)):545-562 doi:10.1016/j.ajog.2018.07.017.

Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias.

Zheng C, Lin X, Xu X, et al.

EBioMedicine 2019; (40()):695-709 doi:10.1016/j.ebiom.2019.01.010.

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Wehrle A, Witkos TM, Unger S, et al.

JCI insight 2019; (4(3)).

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.

Liu Y, Wang L, Yang YK, et al.

Diagnostic pathology 2019; (14(1)):76 doi:10.1186/s13000-019-0853-x.

Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.

Wang W, Wu Q, Sun L, et al.

Case reports in obstetrics and gynecology 2019; (2019()):7981767 doi:10.1155/2019/7981767.

Perinatal Palliative Care: ACOG COMMITTEE OPINION, Number 786.

Obstetrics and gynecology 2019; (134(3)):e84-e89 doi:10.1097/AOG.0000000000003425.

Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene.

Dogan P, Varal IG, Gorukmez O, et al.

Balkan journal of medical genetics : BJMG 2019; (22(1)):89-94 doi:10.2478/bjmg-2019-0001.

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita.

Nenna R, Turchetti A, Mastrogiorgio G, Midulla F

The application of clinical genetics 2019; (12()):235-238 doi:10.2147/TACG.S197205.

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.

Sato T, Kojima T, Samura O, et al.

American journal of medical genetics. Part A 2020; (182(4)):735-739 doi:10.1002/ajmg.a.61469.

Creating Evidence: Findings from a Grounded Theory of Memory-Making in Neonatal Bereavement Care in Australia.

Thornton R, Nicholson P, Harms L

Journal of pediatric nursing 2020; (53()):29-35 doi:10.1016/j.pedn.2020.04.006.

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.

Al-Sannaa NA, Hoornaert KP, Van Laer L, et al.

European journal of medical genetics 2020; (63(12)):104059 doi:10.1016/j.ejmg.2020.104059.

Perinatal Palliative Care Birth Planning as Advance Care Planning.

Cortezzo DE, Ellis K, Schlegel A

Frontiers in pediatrics 2020; (8()):556 doi:10.3389/fped.2020.00556.

"Yes to Life" and the Expansion of Perinatal Hospice.

Kuebelbeck A

Perspectives in biology and medicine 2020; (63(3)):526-531 doi:10.1353/pbm.2020.0041.

Development of a Perinatal Palliative Care Model at a Level II Perinatal Center Supported by a Pediatric Palliative Care Network.

Bolognani M, Morelli PD, Scolari I, et al.

Frontiers in pediatrics 2020; (8()):574397 doi:10.3389/fped.2020.574397.

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Stembalska A, Dudarewicz L, Śmigiel R

Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2021; (30(6)):641-647 doi:10.17219/acem/134166.

Parent's Lived Experience of Memory Making With Their Child at or Near End of Life.

Clarke T, Connolly M

The American journal of hospice & palliative care 2022; (39(7)):798-805 doi:10.1177/10499091211047838.

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Bruni V, Spoleti CB, La Barbera A, et al.

Genes 2021; (12(9)) doi:10.3390/genes12091395.

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Scocchia A, Kangas-Kontio T, Irving M, et al.

Orphanet journal of rare diseases 2021; (16(1)):412 doi:10.1186/s13023-021-02025-7.

Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.

Batey N, Spiller M, Balasubramanian M

European journal of medical genetics 2022; (65(4)):104470 doi:10.1016/j.ejmg.2022.104470.

Longitudinal Perinatal Palliative Care for Severe Fetal Neurologic Diagnoses.

Humphrey LM, Schlegel AB

Seminars in pediatric neurology 2022; (42()):100965 doi:10.1016/j.spen.2022.100965.

Spontaneous Rupture of Unscarred Uterus in a Term Primagravida with Lethal Skeletal Dysplasia Fetus (Thanatophoric dysplasia). A Case Report and Review of the Literature.

Hussein AI, Omar AA, Hassan HA, et al.

International medical case reports journal 2022; (15()):551-556 doi:10.2147/IMCRJ.S383195.

The Path Is Made by Walking-Mapping the Healthcare Pathways of Parents Continuing Pregnancy after a Severe Life-Limiting Fetal Diagnosis: A Qualitative Interview Study.

Hein K, Flaig F, Schramm A, et al.

Children (Basel, Switzerland) 2022; (9(10)) doi:10.3390/children9101555.

Antenatal Phenotype of Desbuquois Dysplasia.

Biji IK, Mahay SB, Saxena R, et al.

Indian journal of pediatrics 2023; (90(1)):83-86 doi:10.1007/s12098-022-04386-8.

Novel missense COL2A1 variant in a fetus with achondrogenesis type II.

Kobayashi Y, Ito Y, Taniguchi K, et al.

Human genome variation 2022; (9(1)):40 doi:10.1038/s41439-022-00218-5.

The role of children's hospices in perinatal palliative care and advance care planning: The results of a national British survey.

Tatterton MJ, Fisher MJ, Storton H, Walker C

Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2023; (55(4)):864-873 doi:10.1111/jnu.12866.

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

Silveira C, da Costa Silveira K, Lacarrubba-Flores MD, et al.

Molecular syndromology 2023; (13(6)):485-495 doi:10.1159/000525020.

Understanding the experiences of mothers receiving perinatal palliative care: A qualitative study.

Tewani K, Singh R, Wendy CPY, et al.

Palliative medicine 2023; (37(9)):1379-1388 doi:10.1177/02692163231171182.

Role of palliative care in fetal neurological consultations: Guiding through uncertainty and hope.

Cortezzo DE, Vawter-Lee M, Shoaib A, Venkatesan C

Frontiers in pediatrics 2023; (11()):1205543 doi:10.3389/fped.2023.1205543.

Skeletal Dysplasia: A Case Report.

Gică N, Mîrza G, Gică C, et al.

Diagnostics (Basel, Switzerland) 2023; (13(18)) doi:10.3390/diagnostics13182905.

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.

Liu W, Cao J, Shi X, et al.

Orphanet journal of rare diseases 2023; (18(1)):336 doi:10.1186/s13023-023-02955-4.

Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia.

Mehollin-Ray AR, Stover S, Cassady CI, et al.

Pediatric radiology 2024; (54(1)):43-48 doi:10.1007/s00247-023-05825-0.

Recognising uncertainty: an integrated framework for palliative care in perinatal medicine.

Wilkinson D, Bertaud S, Mancini A, et al.

Archives of disease in childhood. Fetal and neonatal edition 2025; (110(3)):236-244 doi:10.1136/archdischild-2024-327662.

Perinatal palliative care in low- and middle-income countries: a scoping review.

Rent S, Titchiner D, Rholl E, et al.

Annals of palliative medicine 2024; (13(6)):1420-1448 doi:10.21037/apm-24-87.

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Xiong S, Hu G, Zhou Y, et al.

Hereditas 2025; (162(1)):11 doi:10.1186/s41065-025-00375-x.

Legacy-making interventions in pediatric palliative care: A mixed methods systematic review.

Deng C, Zheng R, Hong J, Guo Q

Asia-Pacific journal of oncology nursing 2025; (12()):100694 doi:10.1016/j.apjon.2025.100694.

Pathogenicity effects of a COL2A1 missense mutation (c.1594G>C) in cartilage development.

Zhou J, Yuan T

Translational pediatrics 2025; (14(7)):1511-1519 doi:10.21037/tp-2025-79.

Improving Perinatal Palliative Care in the Communities: A Regional Population-Based Study.

Takashima K, Hitosugi M, Yamamoto M, Maruo Y

Maternal and child health journal 2025; (29(10)):1379-1386 doi:10.1007/s10995-025-04162-y.

Exploring the experiences of neonatal parents for neonatal palliative care: a meta-synthesis of qualitative research.

Zuo Y, Wang Y, Wang Z, et al.

BMC palliative care 2025; (25(1)):33 doi:10.1186/s12904-025-01982-1.