The utilization of genetic counselors within a newborn screening program

Genetic counselors have participated in the Michigan Newborn Screening Program on a contractual basis since 1988. Their role includes newborn screening education and training, newborn nursery site visits, and monitoring newborn screening in hospitals. Their impact has been to improve the quality of newborn screening services by reducing errors and increasing completion of data fields on newborn screening cards, improving hospital nursery cooperation and problem solving, and enhancing health department response to specific problems.     

降钙素原、内毒素检测在新生儿败血症早期诊断的临床研究

为了探讨降钙素原（PCT ）及内毒素在新生儿败血症早期诊断中的临床价值,本研究选择在我院新生儿科收治的新生儿败血症患儿60例作为研究组,另选同期住院的非感染性疾病患儿40例作为对照组,测定两组新生儿血清 PCT 和内毒素含量,比较两个指标诊断新生儿败血症的敏感性和特异性。结果显示研究组败血症新生儿 PCT 和内毒素的含量均比对照组升高明显,差异有统计学意义（P＜0．05）,PCT 的敏感性及特异性分别为90．78％、92．82％;内毒素的敏感性及特异性分别为86．73％、62．6％。提示 PCT 和内毒素在新生儿败血症早期诊断中的敏感性和特异性高,可作为临床诊断和治疗效果评价的重要指标。     

Predictors of maternal reactions to excessive crying of newborns. Findings from a prospective study in a naturalistic situation

The prospective study examines which factors assessed in pregnancy predispose mothers to seeing their newborn crying more as a problem and to more mental health problems in response to excessive baby crying. A total of 2140 pregnant women participated in the study, of which 1798 delivered a living singleton. Data was collected by means of a series of written questionnaires. The duration of the baby crying as well as the maternal reactions to the crying were assessed at a mean time of 1–2 months following delivery. The maternal reactions were related to several variables assessed at the end of the first trimester of pregnancy. Data was analysed by means of the method of stepwise multiple regression. Four factors were found to be associated with the reactions of mothers to newborn crying. These are: the duration of the crying, a first-born baby, a relatively high maternal age, and a relatively high score on ‘neuroticism’ in mothers. It was concluded that it is possible to indicate to a certain degree which mothers of excessive crying babies are prone to report more impact of the crying or more mental health symptomatology. It might be worthwhile to offer those mothers some extra support in order to try to prevent the situation from becoming worse. © 1998 John Wiley & Sons, Ltd.     

Neonatal imitation in a mother–infant setting

Imitation of tongue protrusions and mouth openings was investigated in 18 newborn infants using a procedure differing in three ways from previous laboratory studies: the mother presented the target gestures, she was permitted to adjust to the infant's reactions, and the infant's baseline response rate was assessed during face-to-face interaction. This procedure was assumed to facilitate infant imitation. Compared with baseline responses in face-to-face interaction, both tongue protrusions and mouth openings were imitated in the two conditions. No imitation, however, was found when the responses in the two imitation conditions were compared. These results are less convincing than those found in strictly controlled laboratory experiments. A less restrictive procedure did not, therefore, promote imitation. The mixed results could be explained by too short an exposure to the target gesture. If repeated and insistent gesturing is a crucial condition, neonatal imitation might be understood to be the result of instruction and teaching, rather than a means of mutual communication. © 1998 John Wiley & Sons, Ltd.     

The Moro reaction: More than a reflex,a ritualized behavior of nonverbal communication

ObjectiveTo propose a phylogenetic significance to the Moro reflex which remains unexplained since its publication in 1918 because both hands are free at the end of the gesture.MethodAmong the 75 videos of healthy term newborns we have filmed in a research project on antenatal education to parenthood, we describe a sequence that clearly showed the successive movements of the Moro reflex and we report the occurrence of this reflex in the videos that were recorded from Time 0 of birth defined as the moment that lies between the birth of the thorax and the pelvis of the infant.ResultsThe selected sequence showed the following succession of the newborn’s actions: quick extension-adduction of both arms, the orientation of the body, head and eyes towards a human person, and full extension-abduction of both arms with spreading of the fingers, crying and a distressed face. There were 13 Moro reflexes between 2 and 14 s from Time 0 of birth. We found a significant association between the occurrence of the Moro reflex and the placement of the newborn at birth in supine position on the mother’s abdomen (p = 0.002).DiscussionThe quick extension-adduction of both arms which started the sequence may be considered as a startle reflex controlled by the neural fear system and the arm extension-adduction which followed as a Moro reflex. The characteristics of all Moro reflexes were those of ritualization: amplitude, duration, stereotype of the gestures. This evolutionary process turns a physiological behavior, grasping in this case, to a non-verbal communicative behavior whose meaning is a request to be picked up in the arms. The gestures associated with the Moro reflex: crying and orientation of the body, head, and eyes towards a human person, are gestures of intention to communicate which support our hypothesis. The neural mechanism of the Moro reaction probably involves both the fear and the separation-distress systems.ConclusionThis paper proposes for the first time a phylogenetic significance to the Moro reflex: a ritualized behavior of nonverbal communication. Professionals should avoid stimulating the newborns’ fear system by unnecessarily triggering Moro reflexes. Antenatal education should teach parents to respond to the Moro reflexes of their newborn infant by picking her up in their arms with mother talk.     

Newborn screening for cystic fibrosis: Educational implications

We examined the educational implications of newborn screening for cystic fibrosis (CF) as performed by combining the measurement of immunoreactive trypsin with analysis for the most common CF mutation, F508. Four out of 77 (5%) of maternity staff from 11 hospitals in rural New South Wales, Australia had learned about the salient features of the screening protocol from a pamphlet distributed from a central laboratory. In comparison, a didactic lesson resulted in a significantly greater (p<0.00006) number of maternity staff learning about the salient features of the screening protocol. Most maternity staff expanded their explanation to parents of newborn babies because of the didactic lesson.     

The effect of odors on human newborn infants under stress

Five-day-old human infants' responses to heelstick stress were assessed with behavioral and physiological indices. The subjects were divided randomly into three groups: the LAV group, who were presented with artificial odor of lavender during the heelstick; the MILK group, who were presented with artificial odor of milk during the heelstick; and the CONT group, who were presented with no special odors. The CONT group showed more adrenocortisol release in saliva than the other groups, but there were no differences between the two odors.     

Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test

Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents’ preferences regarding counseling during their infant's sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents’ preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents’ distress while mismatched counseling tended to increase parents’ worry about their infant.