1. Angelini, Diane J. EdD, CNM, FACNM, FAAN, Journal Editor
  2. Blackburn, Susan PhD, RN,C, FAAN, Journal Editor

Article Content

This issue of JPNN addresses genetic and preconception care. It is estimated that up to 30% of pregnant women begin traditional prenatal care in the second trimester after the majority of organogenesis occurs. 1 This, obviously, is too late to address preventable genetic conditions or to have an impact on genetically related diseases. Preconceptional evaluation and counseling can provide opportunities to identify risks for the mother and fetus and supply education and appropriate interventions prior to pregnancy.


In the perinatal section, Moos takes the approach that despite talking about preconceptional health care promotion, little evidence exists that the paradigm shift has occurred or that public awareness is heightened. She looks at lessons learned and how to move the agenda forward.


Kendrick provides a review of preconception care in women with diabetes. She reviews the evidence regarding reduction of malformations and improvement in glycemic control in diabetic patients when incorporating preconception care. Developing a comprehensive preconception plan aids in improving pregnancy outcomes in these women.


Wille et al explore advances in preconception genetic counseling. This helps couples with the opportunity to identify and reduce potential genetic risks in pregnancy and plan for known genetic risks. Providing recurrence or occurrence risk information prior to conception aids couples in appropriate decision making. Special emphasis is placed on addressing cystic fibrosis screening, first trimester genetic screening, preimplantation genetic diagnosis, and maternal thrombophilia detection.


Newborn screening, mandated by state laws, has been a routine practice in neonatal care for many years. However, the number of disorders that could be screened in a cost-effective manner has been limited. This is changing with the advent of new technology, tandem mass spectrometry, which allows rapid screening for multiple disorders using the standard dried filter paper blood spot form. As with the advent of many newer technologies, issues and concerns have also been raised. Banta-Wright and Steiner examine this new technology, describing its development and use with newborn screening as a primer for perinatal and neonatal nurses. They describe which disorders can be screened for by tandem mass spectrometry and discuss clinical implications of several disorders as exemplars. Banta-Wright and Steiner also discuss some of the issues generated by this new technology and implications for nursing practice. In the final article in this issue Wilder discusss a recently identified genetic disorder involving deficiency of surfactant protein B (SP-B). SP-B deficiency leads to progressive, lethal, hypoxemic respiratory failure. Wilders describes the underlying pathophysiology of SP-B, the gentics basis for this disorder, diagnosis, and clinical implications.




1. American College of Obstetricians and Gynecologists. Preconceptional Care. ACOG Technical Bulletin 205. Washington, DC: ACOG; 1995. [Context Link]